日本臨牀　別冊　血液症候群（第3版）I

出版社： 日本臨牀社
発行日： 2023-09-30
分野： 臨床医学：一般  >  雑誌
ISSN： 00471852
雑誌名：
特集： 血液症候群（第3版）I―その他の血液疾患を含めて―
電子書籍版： 2023-09-30 （第3版第1刷）
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目次

  • 特集　血液症候群（第3版）I
    　　　―その他の血液疾患を含めて―

    序　文

    I．造血幹細胞異常
    　１．再生不良性貧血
    　　（１）テロメア制御遺伝子とその構造
    　　（２）遺伝性骨髄不全症候群
    　　　　１）Fanconi 貧血
    　　　　２）先天性角化不全症
    　　　　３）Shwachman-Diamond 症候群
    　　（３）後天性再生不良性貧血
    　　（４）二次性再生不良性貧血
    　　　　１）薬剤性再生不良性貧血
    　　　　２）肝炎後再生不良性貧血
    　　　　３）再生不良性貧血-発作性夜間ヘモグロビン尿症症候群
    　　（５）再生不良性貧血診療の参照ガイド

    II．赤血球の異常
    　１．貧　血
    　　（１）赤芽球癆
    　　　　１）先天性赤芽球癆(Diamond-Blackfan症候群)
    　　　　２）後天性赤芽球癆
    　　　　　(1)薬剤誘発性赤芽球癆
    　　　　　(2)T細胞大型顆粒リンパ球性白血病に伴う後天性赤芽球癆
    　　　　　(3)胸腺腫を合併する慢性赤芽球癆
    　　　　　(4)ヒトパルボウイルスB19感染による急性赤芽球癆
    　　（２）先天性赤血球異形成貧血
    　　（３）巨赤芽球性貧血
    　　　　１）悪性貧血
    　　　　２）若年性悪性貧血
    　　　　３）Imerslund-Gräsbeck症候群
    　　　　４）チアミン反応性巨赤芽球性貧血症候群
    　　　　５）先天性オロト酸尿症
    　　　　６）ホルムイミノトランスフェラーゼ欠損症
    　　　　７）胃切除後巨赤芽球性貧血
    　　　　８）薬剤起因性巨赤芽球性貧血
    　　　　９） ビタミンB12依存性メチルマロン酸尿症
    　　　　10）ホモシスチン尿症
    　　　　11）葉酸欠乏性巨赤芽球性貧血
    　　　　12）5-メチルテトラヒドロ葉酸ーホモシステインメチル転換酵素欠損症
    　　　　13）ジヒドロ葉酸還元酵素欠損症
    　　　　14）ビタミンC欠乏性巨赤芽球性貧血
    　　　　15）Hunter舌炎
    　　　　16）亜急性連合性脊髄変性症
    　　（４）鉄欠乏性貧血と類似疾患
    　　　　１）鉄欠乏性貧血
    　　　　２）鉄剤不応の鉄欠乏性貧血
    　　　　３）先天性無トランスフェリン血症
    　　　　４）後天性無トランスフェリン血症
    　　　　５）Hayem-Faber症候群（慢性鉄欠乏性貧血）
    　　（５）鉄芽球性貧血
    　　　　１）遺伝性鉄芽球性貧血
    　　　　２）後天性鉄芽球性貧血
    　　　　３）ピリドキシン反応性鉄芽球性貧血
    　　（６）銅欠乏性貧血(Menkes症候群，kinky hair syndrome)
    　　（７）溶血性貧血
    　　　　１）先天性溶血性貧血
    　　　　２）後天性溶血性貧血
    　　（８）その他の貧血
    　　　　１）肝疾患に伴う貧血
    　　　　２）内分泌疾患に伴う貧血
    　　　　３）腎性貧血
    　　　　４）未熟児貧血
    　　　　５）老人性貧血
    　　　　６）薬剤起因性貧血
    　　　　７）放射線による造血障害
    　　　　８）寄生虫や微生物による赤血球損傷
    　　　　９）アルコールによる造血障害
    　２．ヘモグロビン異常
    　　（１）先天性メトヘモグロビン血症
    　　　　１）NADH-シトクロムb5還元酵素異常による遺伝性メトヘモグロビン血症
    　　　　２）ヘモグロビンM 症
    　　（３）後天性メトヘモグロビン血症
    　　（４）スルフヘモグロビン血症
    　　（５）カルボキシヘモグロビン(COHb)血症
    　３．ポルフィリン代謝異常
    　　（１）先天性ポルフィリン代謝異常
    　　　　１）骨髄性ポルフィリン代謝異常
    　　　　２）肝性ポルフィリン代謝異常
    　　（２）後天性ポルフィリン代謝異常
    　　　　１）鉛中毒によるポルフィリン症
    　４．鉄過剰症
    　　（１）ヘモクロマトーシス
    　　（２）二次性ヘモクロマトーシス
    　　（３）新生児鉄過剰症
    　　（４）腎ヘモジデローシス
    　５．二次性赤血球増加症
    　　（１）相対的赤血球増加症
    　　　　１）脱水症
    　　　　２）ストレス多血症
    　　（２）絶対的赤血球増加症
    　　　　１）心疾患に伴う二次性多血症
    　　　　２）腎疾患に伴う赤血球増加症
    　　　　３）Pickwick症候群に伴う赤血球増加症
    　　　　４）エリスロポエチン産生腫瘍
    　　　　５）劣性遺伝性家族性赤血球増加症
    　６．一次性赤血球増加症
    　　（１）ジホスホグリセリン酸ムターゼ異常症

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参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

I 造血幹細胞異常

P.8 掲載の参考文献
1) Blackburn EH, Epel ES, Lin J : Human telomere biology : A contributory and interactive factor in aging, disease risks, and protection. Science 350 : 1193-1198, 2015.
PubMed
2) de Lange T : Shelterin-Mediated Telomere Protection. Annu Rev Genet 52 : 223-247, 2018.
PubMed
3) Seimiya H : Crossroads of telomere biology and anticancer drug discovery. Cancer Sci 111 : 3089-3099, 2020.
PubMed
4) Bell RJ, Rube HT, Xavier-Magalhaes A, et al : Understanding TERT Promoter Mutations : A Common Path to Immortality. Mol Cancer Res 14 : 315-323, 2016.
PubMed
5) Revy P, Kannengiesser C, Bertuch AA : Genetics of human telomere biology disorders. Nat Rev Genet 24 : 86-108, 2023.
PubMed
6) Garus A, Autexier C : Dyskerin : an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance. RNA 27 : 1441-1458, 2021.
PubMed
7) Vulliamy T, Marrone A, Goldman F, et al : The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413 : 432-435, 2001.
PubMed
8) Yamaguchi H, Baerlocher GM, Lansdorp PM, et al : Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 102 : 916-918, 2003.
PubMed
9) Savage SA, Giri N, Baerlocher GM, et al : TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 82 : 501-509, 2008.
PubMed
10) Walne AJ, Vulliamy T, Beswick R, et al : TINF2 mutations result in very short telomeres : analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 112 : 3594-3600, 2008.
PubMed
11) Yamaguchi H, Calado RT, Ly H, et al : Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 352 : 1413-1424, 2005.
PubMed
12) Marrone A, Walne A, Tamary H, et al : Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 110 : 4198-4205, 2007.
PubMed
13) Du HY, Pumbo E, Ivanovich J, et al : TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 113 : 309-316, 2009.
PubMed
14) Sharma R, Sahoo SS, Honda M, et al : Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood 139 : 1039-1051, 2022.
 
15) Townsley DM, Dumitriu B, Liu D, et al : Danazol Treatment for Telomere Diseases. N Engl J Med 374 : 1922-1931, 2016.
PubMed
P.14 掲載の参考文献
1) Fanconi G : Familiare infantile perniziosa-artige anamie pernizioses blutbild und konstitution Jahrb Kinderh 117 : 257-280, 1927.
 
2) Fanconi G : Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects. Semin Hematol 4 : 233-240, 1967.
 
3) Schroeder TM, Anschutz F, Knopp A : [Spontaneous chromosome aberrations in familial panmyelopathy]. Humangenetik 1 : 194-196, 1964. [PMID : 5869479]
 
4) Sasaki MS, Tonomura A : A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 33 : 1829-1836, 1973.
PubMed
5) 小原明 : 日本における小児再生不良性貧血など造血障害性疾患の現状-日本小児血液学会再生不良性貧血委員会疫学調査 1988～2005年-. 日本小児血液学会雑誌 22 : 53-62, 2008.
Medical*Online
6) Mori M, Hira A, Yoshida K, et al : Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica 104 : 1962-1973, 2019.
PubMed
7) Kottemann MC, Smogorzewska A : Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature 493 : 356-363, 2013.
PubMed
8) Ceccaldi R, Sarangi P, D'Andrea AD : The Fanconi anaemia pathway : new players and new functions. Nat Rev Mol Cell Biol 17 : 337-349, 2016.
PubMed
9) Neveling K, Endt D, Hoehn H, et al : Genotype-phenotype correlations in Fanconi anemia. Mutat Res 668 : 73-91, 2009.
PubMed
10) Malric A, Defachelles AS, Leblanc T, et al : Fanconi anemia and solid malignancies in childhood : A national retrospective study. Pediatr Blood Cancer 62 : 463-70, 2015.
PubMed
11) Langevin F, Crossan GP, Rosado IV, et al : Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice. Nature 475 : 53-58, 2011.
PubMed
12) Hira A, Yabe H, Yoshida K, et al : Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Blood 122 : 3206-3209, 2013.
PubMed
13) 矢部普正, 高田穣, 村松秀城 : Fanconi貧血. 遺伝性骨髄不全症診療ガイドライン 2023 (日本小児血液・がん学会編), p16-28, 診断と治療社, 2023.
 
14) Kutler DI, Singh B, Satagopan J, et al : A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 101 : 1249-1256, 2003.
PubMed
15) Yabe H, Inoue H, Matsumoto M, et al : Allogeneic haematopoietic cell transplantation from alternative donors with a conditioning regimen of low-dose irradiation, fludarabine and cyclophosphamide in Fanconi anaemia. Br J Haematol 134 : 208-212, 2006.
PubMed
P.20 掲載の参考文献
1) 山口博樹, 小島勢二, 高橋義行, ほか : 先天性角化不全症. 遺伝性骨髄不全症診療ガイドライン 2023 (日本小児血液・がん学会編), P44-52, 診断と治療社, 2023.
 
2) Calado RT, Young NS : Telomere diseases. N Engl J Med 361 : 2353-2365, 2009.
PubMed
3) Walne AJ, Marrone A, Dokal I : Dyskeratosis congenita : a disorder of defective telomere maintenance? Int J Hematol 82 : 184-189, 2005.
PubMed
4) Walne AJ, Dokal I : Advances in the understanding of dyskeratosis congenita. Br J Haematol 145 : 164-172, 2009.
PubMed
5) Yamaguchi H, Sakaguchi H, Yoshida K, et al : Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. Int J Hematol 102 : 544-552, 2015.
PubMed
6) Niewisch MR, Giri N, McReynolds LJ, et al : Disease progression and clinical outcomes in telomere biology disorders. Blood 139 : 1807-1819, 2022.
PubMed
7) 山口博樹, 檀和夫 : テロメア関連遺伝子異常による骨髄不全症. 臨床血液 51 : 646-653, 2010.
 
8) Nachmani D, Bothmer AH, Grisendi S, et al : Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita. Nat Genet 51 : 1518-1529, 2019.
PubMed
9) Toufektchan E, Lejour V, Durand R, et al : Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. Sci Adv 6 : eaay3511, 2020.
 
10) Marrone A, Dokal I : Dyskeratosis congenita : molecular insights into telomerase function, ageing and cancer. Expert Rev Mol Med 6 : 1-23, 2004.
PubMed
11) Yamaguchi H, Baerlocher GM, Lansdorp PM, et al : Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 102 : 916-918, 2003.
PubMed
12) Yamaguchi H, Calado RT, Ly H, et al : Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 352 : 1413-1424, 2005.
PubMed
13) Junko T, Ly H, Yamaguchi H, et al : Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes. Blood Cells Mol Dis 40 : 185-191, 2008.
PubMed
14) Vulliamy T, Marrone A, Szydlo R, et al : Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36 : 447-449, 2004.
PubMed
15) Calado RT, Yewdell WT, Wilkerson KL, et al : Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. Blood 114 : 2236-2243, 2009.
PubMed
16) Townsley DM, Dumitriu B, Liu D, et al : Danazol Treatment for Telomere Diseases. N Engl J Med 374 : 1922-1931, 2016.
PubMed
17) Gadalla SM, Sales-Bonfim C, Carreras J, et al : Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. Biol Blood Marrow Transplant 19 : 1238-1243, 2013.
 
18) Barbaro P, Vedi A : Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita : Systematic Review of the Literature. Biol Blood Marrow Transplant 22 : 1152-1158, 2016.
PubMed
19) Fioredda F, Iacobelli S, Korthof ET, et al : Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita. Br J Haematol 183 : 110-118, 2018.
PubMed
20) Fogarty PF, Yamaguchi H, Wiestner A, et al : Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 362 : 1628-1630, 2003.
PubMed
P.25 掲載の参考文献
1) Shwachman H, Diamond LK, Oski FA, et al : The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 65 : 645-663, 1964.
PubMed
2) Dror Y, Donadieu J, Koglmeier J, et al : Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci 1242 : 40-55, 2011.
PubMed
3) Boocock GR, Morrison JA, Popovic M, et al : Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 33 : 97-101, 2003.
PubMed
4) Hashmi SK, Allen C, Klaassen R, et al : Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. Clin Genet 79 : 448-458, 2011.
PubMed
5) Zhang S, Shi M, Hui CC, et al : Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol 26 : 6656-6663, 2006.
 
6) Menne TF, Goyenechea B, Sanchez-Puig N, et al : The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 39 : 486-495, 2007.
PubMed
7) Ganapathi KA, Austin KM, Lee CS, et al : The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood 110 : 1458-1465, 2007.
PubMed
8) Kennedy AL, Myers KC, Bowman J, et al : Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun 12 : 1334, 2021.
PubMed
9) Minelli A, Maserati E, Nicolis E, et al : The isochromosome i (7) (q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia 23 : 708-711, 2009.
 
10) Valli R, Pressato B, Marletta C, et al : Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms. Mol Cytogenet 6 : 56, 2013.
PubMed
11) Watanabe K, Ambekar C, Wang H, et al : SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 14 : 77-89, 2009.
PubMed
12) Austin KM, Gupta ML Jr, Coats SA, et al : Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest 118 : 1511-1518, 2008.
PubMed
13) Furutani E, Liu S, Galvin A, et al : Hematologic complications with age in Shwachman-Diamond syndrome. Blood Adv 6 : 297-306, 2022.
PubMed
14) Lindsley RC, Saber W, Mar BG, et al : Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. N Engl J Med 376 : 536-547, 2017.
PubMed
15) 遺伝性骨髄不全症診療ガイドライン 2023 (一般社団法人日本小児血液・がん学会編) VII Shwachman-Diamond症候群. 診断と治療社, 2023.
 
P.32 掲載の参考文献
1) 厚生労働科学研究費補助金難治性疾患政策研究事業, 特発性造血障害に関する調査研究班 : 再生不良性貧血診療の参照ガイド, 令和4年度改訂版, 2023.
 
2) 太田晶子, 島田直樹 : 再生不良性貧血の罹患率の推計-臨床調査個人票の解析-. 厚生労働科学研究費補助金難治性疾患克服研究事業特発性造血障害に関する調査研究 平成28年度総括・分担研究報告書, p50-54, 2017.
 
3) Young NS, Calado RT, Scheinberg P : Current concepts in the pathophysiology and treatment of aplastic anemia. Blood 108 : 2509-2519, 2006.
PubMed
4) Yoshizato T, Dumitriu B, Hosokawa K, et al : Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. N Engl J Med 373 : 35-47, 2015.
PubMed
5) Teramura M, Kimura A, Iwase S, et al : Treatment of severe aplastic anemia with antithymocyte globulin and cyclosporin A with or without G-CSF in adults : a multicenter randomized study in Japan. Blood 110 : 1756-1761, 2007.
PubMed
6) Nakao S, Takami A, Takamatsu H, et al : Isolation of a T-cell clone showing HLA-DRB1*0405-restricted cytotoxicity for hematopoietic cells in a patient with aplastic anemia. Blood 89 : 3691-3699, 1997.
 
7) Risitano AM, Maciejewski JP, Green S, et al : In-vivo dominant immune responses in aplastic anaemia : molecular tracking of putatively pathogenetic T-cell clones by TCR β--CDR3 sequencing. Lancet 364 : 355-364, 2004.
 
8) Katagiri T, Sato-Otsubo A, Kashiwase K, et al : Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia. Blood 118 : 6601-6609, 2011.
PubMed
9) Hosokawa K, Mizumaki H, Yoroidaka T, et al : HLA class I allele-lacking leukocytes predict rare clonal evolution to MDS/AML in patients with acquired aplastic anemia. Blood 137 : 3576-3580, 2021.
 
10) Locasciulli A, Bacigalupo A, Bruno B, et al : Hepatitis-associated aplastic anaemia : epidemiology and treatment results obtained in Europe. A report of The EBMT aplastic anaemia working party. Br J Haematol 149 : 890-895, 2010.
PubMed
11) Killick SB, Bown N, Cavenagh J, et al : Guidelines for the diagnosis and management of adult aplastic anaemia. Br J Haematol 172 : 187-207, 2016.
PubMed
12) Seiki Y, Sasaki Y, Hosokawa K, et al : Increased plasma thrombopoietin levels in patients with myelodysplastic syndrome : a reliable marker for a benign subset of bone marrow failure. Haematologica 98 : 901-907, 2013.
PubMed
13) 米村雄士, 松本雅則, 稲田英一, ほか : 科学的根拠に基づいた赤血球製剤の使用ガイドライン (改訂第2版). 日本輸血細胞治療学会誌 64 : 688-699, 2018.
Medical*Online
14) 高見昭良, 松下正, 緒方正男, ほか : 科学的根拠に基づいた血小板製剤の使用ガイドライン : 2019年改訂版. 日本輸血細胞治療学会誌 65 : 544-561, 2019.
Medical*Online
15) Gurion R, Gafter-Gvili A, Paul M, et al : Hematopoietic growth factors in aplastic anemia patients treated with immunosuppressive therapy-systematic review and meta-analysis. Haematologica 94 : 712-719, 2009.
PubMed
16) Lee JW, Yoon SS, Shen ZX, et al : Iron chelation therapy with deferasirox in patients with aplastic anemia : a subgroup analysis of 116 patients from the EPIC trial. Blood 116 : 2448-2454, 2010.
PubMed
P.37 掲載の参考文献
1) 再生不良性貧血診療の参照ガイド 令和4年度改訂版, 2023. [http://zoketsushogaihan.umin.jp/file/2022/AA_final20230801.pdf]
 
2) Bronfin ID, Singerman I : Acute aplastic anemia complicating arsphenamine therapy : Report of a case treated for syphilis coincident with tuberculosis. JAMA 98 : 1725-1728, 1932.
 
3) Rheingold JJ, Spurling CL : Chloramphenicol and aplastic anemia. JAMA 149 : 1301-1304, 1952.
 
4) Marsh JC, Ball SE, Cavenagh J, et al : Guidelines for the diagnosis and management of aplastic anaemia. Br J Haematol 147 : 43-70, 2009.
PubMed
5) Nagao T, Mauer AM : Concordance for drug-induced aplastic anemia in identical twins. N Engl J Med 281 : 7-11, 1969.
PubMed
P.41 掲載の参考文献
1) 再生不良性貧血診療の参照ガイド (令和4年度改訂版) (研究代表者三谷絹子). 厚生労働科学研究費補助金難治性疾患政策研究事業特発性造血障害に関する調査研究. [http://zoketsushogaihan.umin.jp/file/2022/Aplastic_Anemia.pdf]
 
2) Brown KE, Tisdale J, Barrett AJ, et al : Hepatitis-associated aplastic anemia. N Engl J Med 336 : 1059-1064, 1997.
PubMed
3) Locasciulli A, Bacigalupo A, Bruno B, et al : Hepatitis-associated aplastic anaemia : epidemiology and treatment results obtained in Europe. A report of The EBMT aplastic anaemia working party. Br J Haematol 149 : 890-895, 2010.
PubMed
4) Young NS, Issaragrasil S, Chieh CW, et al : Aplastic anaemia in the Orient. Br J Haematol 62 : 1-6, 1986.
PubMed
5) Wang H, Tu M, Fu R, et al : The clinical and immune characteristics of patients with hepatitis-associated aplastic anemia in China. PLoS One 9 : e98142, 2014.
 
6) 小原明 : 日本における小児再生不良性貧血など造血障害性疾患の現状-日本小児血液学会再生不良性貧血委員会疫学調査 1988～2005年-. 日本小児血液学会雑誌 22 : 53-62, 2008.
Medical*Online
7) Bottiger LE, Westerholm B : Aplastic anaemia. 3. Aplastic anaemia and infectious hepatitis. Acta Med Scand 192 : 323-326, 1972.
PubMed
8) Alshaibani A, Dufour C, Risitano A, et al : Hepatitis-Associated Aplastic Anemia. Hematol Oncol Stem Cell Ther 15 : 8-12, 2022.
PubMed
9) Babushok DV, Grignon AL, Li Y, et al : Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres. Am J Hematol 91 : 243-247, 2016.
PubMed
10) 工藤寿子, 小島勢二 : 肝炎後再生不良性貧血. 日本小児血液学会雑誌 17 : 557-561, 2003.
 
11) Osugi Y, Yagasaki H, Sako M, et al : Antithymocyte globulin and cyclosporine for treatment of 44 children with hepatitis associated aplastic anemia. Haematologica 92 : 1687-1690, 2007.
PubMed
12) Townsley DM, Scheinberg P, Winkler T, et al : Eltrombopag Added to Standard Immunosuppression for Aplastic Anemia. N Engl J Med 376 : 1540-1550, 2017.
PubMed
13) Peffault de Latour R, Kulasekararaj A, Iacobelli S, et al : Eltrombopag Added to Immunosuppression in Severe Aplastic Anemia. N Engl J Med 386 : 11-23, 2022.
PubMed
14) Mori T, Onishi Y, Ozawa Y, et al : Outcome of allogeneic hematopoietic stem cell transplantation in adult patients with hepatitis-associated aplastic anemia. Int J Hematol 109 : 711-717, 2019.
PubMed
15) DeZern AE, Zahurak M, Symons HJ, et al : Alternative donor BMT with posttransplant cyclophosphamide as initial therapy for acquired severe aplastic anemia. Blood 141 : 3031-3038, 2023.
PubMed
P.46 掲載の参考文献
1) 厚生労働科学研究費補助金 (難治性疾患政策研究事業), 特発性造血障害に関する調査研究班 : 発作性夜間ヘモグロビン尿症診療の参照ガイド, 令和4年度改訂版, 2023.
 
2) Lewis SM, Dacie JV : The aplastic anaemia--paroxysmal nocturnal haemoglobinuria syndrome. Br J Haematol 13 : 236-251, 1967.
PubMed
3) Nishimura JI, Kanakura Y, Ware RE, et al : Clinical course and flow cytometric analysis of paroxysmal nocturnal hemoglobinuria in the United States and Japan. Medicine (Baltimore) 83 : 193-207, 2004.
PubMed
4) Takeda J, Miyata T, Kawagoe K, et al : Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 73 : 703-711, 1993.
PubMed
5) Dunn DE, Tanawattanacharoen P, Boccuni P, et al : Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes. Ann Intern Med 131 : 401-408, 1999.
PubMed
6) Katagiri T, Kawamoto H, Nakakuki T, et al : Individual hematopoietic stem cells in human bone marrow of patients with aplastic anemia or myelodysplastic syndrome stably give rise to limited cell lineages. Stem Cells 31 : 536-546, 2013.
PubMed
7) Hosokawa K, Sugimori C, Ishiyama K, et al : Establishment of a flow cytometry assay for detecting paroxysmal nocturnal hemoglobinuria-type cells specific to patients with bone marrow failure. Ann Hematol 97 : 2289-2297, 2018.
PubMed
8) Borowitz MJ, Craig FE, Digiuseppe JA, et al : Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry B Clin Cytom 78 : 211-230, 2010.
PubMed
9) Hosokawa K, Ishiyama K, Ikemoto T, et al : The clinical significance of PNH-phenotype cells accounting for < 0.01% of total granulocytes detected by the Clinical and Laboratory Standards Institute methods in patients with bone marrow failure. Ann Hematol 100 : 1975-1982, 2021.
 
10) Araten DJ, Nafa K, Pakdeesuwan K, et al : Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci U S A 96 : 5209-5214, 1999.
PubMed
11) Hu R, Mukhina GL, Piantadosi S, et al : PIG-A mutations in normal hematopoiesis. Blood 105 : 3848-3854, 2005.
PubMed
12) Fattizzo B, Ireland R, Dunlop A, et al : Clinical and prognostic significance of small paroxysmal nocturnal hemoglobinuria clones in myelodysplastic syndrome and aplastic anemia. Leukemia 35 : 3223-3231, 2021.
PubMed
13) Sugimori C, Mochizuki K, Qi Z, et al : Origin and fate of blood cells deficient in glycosyl-phosphatidylinositol-anchored protein among patients with bone marrow failure. Br J Haematol 147 : 102-112, 2009.
PubMed
14) Hillmen P, Young NS, Schubert J, et al : The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med 355 : 1233-1243, 2006.
PubMed
15) Nishimura J, Yamamoto M, Hayashi S, et al : Genetic variants in C5 and poor response to eculizumab. N Engl J Med 370 : 632-639, 2014.
PubMed
16) Kelly RJ, Hill A, Arnold LM, et al : Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria : sustained efficacy and improved survival. Blood 117 : 6786-6792, 2011.
PubMed
P.53 掲載の参考文献
1) 再生不良性貧血診療の参照ガイド 令和4年度改訂版 (再生不良性貧血の診断基準と診療の参照ガイド改訂版作成のためのワーキンググループ), 2023年3月. [http://zoketsushogaihan.umin.jp/file/2022/Aplastic_Anemia.pdf]
 
2) Townsley DM, Scheinberg P, Winkler T, et al : Eltrombopag Added to Standard Immunosuppression for Aplastic Anemia. N Engl J Med 376 : 1540-1550, 2017.
PubMed
3) Peffault de Latour R, Kulasekararaj A, Iacobelli S, et al : Eltrombopag Added to Immunosuppression in Severe Aplastic Anemia. N Engl J Med 386 : 11-23, 2022.
PubMed
4) Patel BA, Groarke EM, Lotter J, et al : Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag : a phase 2 study. Blood 139 : 34-43, 2022.
PubMed
5) Assi R, Garcia-Manero G, Ravandi F, et al : Addition of eltrombopag to immunosuppressive therapy in patients with newly diagnosed aplastic anemia. Cancer 124 : 4192-4201, 2018.
PubMed
6) Hosokawa K, Yamazaki H, Tanabe M, et al : High-dose romiplostim accelerates hematologic recovery in patients with aplastic anemia refractory to eltrombopag. Leukemia 35 : 906-909, 2021.
PubMed
7) Ise M, Iizuka H, Kamoda Y, et al : Romiplostim is effective for eltrombopag-refractory aplastic anemia : results of a retrospective study. Int J Hematol 112 : 787-794, 2020.
PubMed
8) Kanda Y, Usuki K, Inagaki M, et al : Decision analysis of allogeneic bone marrow transplantation versus immunosuppressive therapy for young adult patients with aplastic anemia. Int J Hematol 117 : 660-668, 2023.
PubMed
9) Huang LF, Li L, Jia JS, et al : Frontline Therapy Options for Adults With Newly Diagnosed Severe Aplastic Anemia : Intensive immunosuppressive Therapy Plus Eltrombopag or Matched Sibling Donor Hematopoietic Stem Cell Transplantation? Transplant Cell Ther 28 : 586.e1-586.e7, 2022.
PubMed
10) Kako S, Nakasone H, Endo H, et al : Clinical course of patients with aplastic anemia or myelodysplastic syndrome associated with persistent neutropenia. Hematol Oncol 30 : 82-88, 2012.
PubMed
11) Scheinberg P, Fischer SH, Li L, et al : Distinct EBV and CMV reactivation patterns following antibody-based immunosuppressive regimens in patients with severe aplastic anemia. Blood 109 : 3219-3224, 2007.
PubMed
12) Killick SB, Bown N, Cavenagh J, et al : Guidelines for the diagnosis and management of adult aplastic anaemia. Br J Haematol 172 : 187-207, 2016.
PubMed
13) Fan X, Desmond R, Winkler T, et al : Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias. Blood Adv 4 : 1700-1710, 2020.
PubMed

II 赤血球の異常

P.60 掲載の参考文献
1) Vlachos A, Ball S, Dahl N, et al : Diagnosing and treating Diamond Blackfan anaemia : results of an international clinical consensus conference. Br J Haematol 142 : 859-876, 2008.
PubMed
2) Da Costa L, Leblanc T, Mohandas N : Diamond-Blackfan anemia. Blood 136 : 1262-1273, 2020.
PubMed
3) 小原明 : 日本における小児再生不良性貧血など造血障害性疾患の現状-日本小児血液学会再生不良性貧血委員会疫学調査 1988～2005年-. 日小血会誌 22 : 53-62, 2008.
 
4) Draptchinskaia N, Gustavsson P, Andersson B, et al : The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 21 : 169-175, 1999.
PubMed
5) Gazda HT, Sheen MR, Vlachos A, et al : Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 83 : 769-780, 2008.
PubMed
6) Doherty L, Sheen MR, Vlachos A, et al : Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 86 : 222-228, 2010.
PubMed
7) Wang R, Yoshida K, Toki T, et al : Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Br J Haematol 168 : 854-864, 2015.
PubMed
8) Ikeda F, Yoshida K, Toki T, et al : Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. Haematologica 102 : e93-e96, 2017.
PubMed
9) Ulirsch JC, Verboon JM, Kazerounian S, et al : The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 103 : 930-947, 2018.
PubMed
10) Kuramitsu M, Sato-Otsubo A, Morio T, et al : Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood 119 : 2376-2384, 2012.
PubMed
11) Gripp KW, Curry C, Olney AH, et al : Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A 164A : 2240-2249, 2014.
PubMed
12) Sankaran VG, Ghazvinian R, Do R, et al : Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest 122 : 2439-2443, 2012.
PubMed
13) 伊藤悦朗, 小島勢二, 大賀正一, ほか : Diamond-Blackfan貧血. 遺伝性骨髄不全症診療ガイドライン 2023 (一般社団法人日本小児血液・がん学会編), p4-15, 診断と治療社, 2023.
 
14) Vlachos A, Atsidaftos E, Lababidi ML, et al : L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia : Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry. Pediatr Blood Cancer 67 : e28748, 2020.
PubMed
15) Koyamaishi S, Kamio T, Kobayashi A, et al : Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia. Bone Marrow Transplant 56 : 1013-1020, 2021.
PubMed
P.63 掲載の参考文献
1) 石田文宏 : 後天性赤芽球癆の病態と治療研究の進歩. 臨床血液 61 : 1098-1104,, 2020.
 
2) Sawada K, Hirokawa M, Fujishima N, et al : Long-term outcome of patients with acquired primary idiopathic pure red cell aplasia receiving cyclosporine A. A nationwide cohort study in Japan for the PRCA Collaborative Study Group. Haematologica 92 : 1021-1028, 2007.
 
3) Smalling R, Foote M, Molineux G, et al : Drug-induced and antibody-mediated pure red cell aplasia : a review of literature and current knowledge. Biotechnol Annu Rev 10 : 237-250, 2004.
PubMed
4) 赤芽球癆診療の参照ガイド改訂版作成のためのワーキンググループ : 赤芽球癆診療の参照ガイド 令和4年度改訂版 (第7版), 2023年.
 
5) Guo Q, Gao J, Guo H, et al : Immune checkpoint inhibitor-induced pure red cell aplasia : Case series and large-scale pharmacovigilance analysis. Int Immunopharmacol 114 : 109490, 2023.
 
6) 山口優太, 三田和広, 村上賢, ほか : 薬剤中止のみで自然軽快した, フルダラビンによる赤芽球癆の1例. 臨床血液 62 : 209, 2021.
 
P.67 掲載の参考文献
1) Means RT Jr : Pure red cell aplasia. Blood 128 : 2504-2509, 2016.
PubMed
2) Sawada K, Fujishima N, Hirokawa M : Acquired pure red cell aplasia : updated review of treatment. Br J Haematol 142 : 505-514, 2008.
PubMed
3) Nakazawa H, Sakai K, Ohta A, et al : Incidence of acquired pure red cell aplasia : a nationwide epidemiologic analysis with 2 registry databases in Japan. Blood Adv 6 : 6282-6290, 2022.
PubMed
4) Kwong YL, Au WY, Leung AY, et al : T-cell large granular lymphocyte leukemia : an Asian perspective. Ann Hematol 89 : 331-339, 2010.
 
5) Oshimi K : Clinical Features, Pathogenesis, and Treatment of Large Granular Lymphocyte Leukemias. Intern Med 56 : 1759-1769, 2017.
PubMed
6) Handgretinger R, Geiselhart A, Moris A, et al : Pure red-cell aplasia associated with clonal expansion of granular lymphocytes expressing killer-cell inhibitory receptors. N Engl J Med 340 : 278-284, 1999.
PubMed
7) Masuda M, Teramura M, Matsuda A, et al : Clonal T cells of pure red-cell aplasia. Am J Hematol 79 : 332-333, 2005.
PubMed
8) Ishida F, Matsuda K, Sekiguchi N, et al : STAT3 gene mutations and their association with pure red cell aplasia in large granular lymphocyte leukemia. Cancer Sci 105 : 342-346, 2014.
PubMed
9) Kawakami T, Sekiguchi N, Kobayashi J, et al : Frequent STAT3 mutations in CD8+ T cells from patients with pure red cell aplasia. Blood Adv 2 : 2704-2712, 2018.
PubMed
10) Andersson EI, Tanahashi T, Sekiguchi N, et al : High incidence of activating STAT5B mutations in CD4-positive T-cell large granular lymphocyte leukemia. Blood 128 : 2465-2468, 2016.
PubMed
11) Yamane T, Kawakami T, Sekiguchi N, et al : High frequency of STAT3 gene mutations in T-cell receptor (TCR) γδ-type T-cell large granular lymphocytic leukaemia : implications for molecular diagnostics. Br J Haematol 190 : e301-e304, 2020.
 
12) Bareau B, Rey J, Hamidou M, et al : Analysis of a French cohort of patients with large granular lymphocyte leukemia : a report on 229 cases. Haematologica 95 : 1534-1541, 2010.
PubMed
13) Chan WC FK, Morice WG, Matutes E : T-cell large granular lymphocytic leukaemia. In WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th ed, revised ed (ed by Swerdlow SH, Campo E, Harris NL, et al), International Agency for Research on Cancer, p348-350, 2017.
 
14) Fujishima N, Sawada K, Hirokawa M, et al : Long-term responses and outcomes following immunosuppressive therapy in large granular lymphocyte leukemia-associated pure red cell aplasia : a Nationwide Cohort Study in Japan for the PRCA Collaborative Study Group. Haematologica 93 : 1555-1559, 2008.
 
15) Hirokawa M, Sawada K, Fujishima N, et al : Long-term response and outcome following immunosuppressive therapy in thymoma-associated pure red cell aplasia : a nationwide cohort study in Japan by the PRCA collaborative study group. Haematologica 93 : 27-33, 2008.
 
16) Hirokawa M, Fukuda T, Ohashi K, et al : Efficacy and long-term outcome of treatment for pure red cell aplasia after allogeneic stem cell transplantation from major ABO-incompatible donors. Biol Blood Marrow Transplant 19 : 1026-1032, 2013.
 
17) 厚生労働省 : 「輸血療法の実施に関する指針」及び「血液製剤の使用指針」の一部改正について 2023. [Available from : https://www.mhlw.go.jp/stf/seisakunitsuite/bunya/0000065580.html.]
 
18) Balasubramanian SK, Sadaps M, Thota S, et al : Rational management approach to pure red cell aplasia. Haematologica 103 : 221-230, 2018.
PubMed
19) Gurnari C, Maciejewski JP : How I manage acquired pure red cell aplasia in adults. Blood 137 : 2001-2009, 2021.
 
20) Halkes C, de Wreede LC, Knol C, et al : Allogeneic stem cell transplantation for acquired pure red cell aplasia. Am J Hematol 94 : E294-E296, 2019.
PubMed
21) Hirokawa M, Sawada K, Fujishima N, et al : Long-term outcome of patients with acquired chronic pure red cell aplasia (PRCA) following immunosuppressive therapy : a final report of the nationwide cohort study in 2004/2006 by the Japan PRCA collaborative study group. Br J Haematol 169 : 879-886, 2015.
 
22) Clark DA, Dessypris EN, Krantz SB : Studies on pure red cell aplasia. XI. Results of immunosuppressive treatment of 37 patients. Blood 63 : 277-286, 1984.
PubMed
23) 廣川誠, 藤島直仁, 澤田賢一, ほか : 赤芽球癆診療の参照ガイド 令和1年改訂版 (第6版). 2020.
 
24) 石田文宏, 中澤英之, 張替秀郎, ほか : 赤芽球癆診療の参照ガイド 令和4年改訂版 (第7版) 2023. [Available from : http://zoketsushogaihan.umin.jp/resources.html.]
 
P.72 掲載の参考文献
1) Means RT Jr : Pure red cell aplasia. Blood 128 : 2504-2509, 2016.
PubMed
2) 厚生労働省科学研究費補助金難治性疾患政策研究事業特発性造血障害に関する調査研究班. 赤芽球癆診療の参照ガイド 令和4年度改訂版 (第7版) (研究代表者三谷絹子), 2023. [http://zoketsushogaihan.umin.jp/file/2022/Erythroblastic_locomotor_ataxia.pdf]
 
3) 藤島直仁 : 赤芽球癆の診断と治療. 臨床血液 62 : 931-937, 2021.
 
4) Nakazawa H, Sakai K, Ohta A, et al : Incidence of acquired pure red cell aplasia : a nationwide epidemiologic analysis with 2 registry databases in Japan. Blood Adv 6 : 6282-6290, 2022.
PubMed
5) Yen CC, Huang WL, Li SS, et al : Pure Red Cell Aplasia and Other Haematological Diseases Associated With Thymoma : A Case Series and Systematic Review. Front Med (Lausanne) 8 : 759914, 2021.
PubMed
6) Gurnari C, Maciejewski JP : How I manage acquired pure red cell aplasia in adults. Blood 137 : 2001-2009, 2021.
 
7) Sawada K, Hirokawa M, Fujishima N, et al : Long-term outcome of patients with acquired primary idiopathic pure red cell aplasia receiving cyclosporine A. A nationwide cohort study in Japan for the PRCA Collaborative Study Group. Haematologica 92 : 1021-1028, 2007.
 
8) Fujishima N, Hirokawa M, Fujishima M, et al : Oligoclonal T cell expansion in blood but not in the thymus from a patient with thymoma-associated pure red cell aplasia. Haematologica 91 (12 Suppl) : ECR47, 2006.
 
9) Michishita Y, Hirokawa M, Fujishima N, et al : CDR3-independent expansion of Vδ1 T lymphocytes in acquired chronic pure red cell aplasia. Immunol Lett 150 : 23-29, 2013.
 
10) Handgretinger R, Geiselhart A, Moris A, et al : Pure red-cell aplasia associated with clonal expansion of granular lymphocytes expressing killer-cell inhibitory receptors. N Engl J Med 340 : 278-284, 1999.
PubMed
11) Hirokawa M, Sawada K, Fujishima N, et al : Long-term response and outcome following immunosuppressive therapy in thymoma-associated pure red cell aplasia : a nationwide cohort study in Japan by the PRCA collaborative study group. Haematologica 93 : 27-33, 2008.
 
12) Fujishima N, Kohmaru J, Koyota S, et al : Clonal hematopoiesis in adult pure red cell aplasia. Sci Rep 11 : 2253, 2021.
PubMed
13) Kawakami T, Sekiguchi N, Kobayashi J, et al : Frequent STAT3 mutations in CD8+ T cells from patients with pure red cell aplasia. Blood Adv 2 : 2704-2712, 2018.
PubMed
14) Hirokawa M, Sawada K, Fujishima N, et al : Long-term outcome of patients with acquired chronic pure red cell aplasia (PRCA) following immunosuppressive therapy : a final report of the nationwide cohort study in 2004/2006 by the Japan PRCA collaborative study group. Br J Haematol 169 : 879-886, 2015.
 
15) Chen Z, Liu X, Chen M, et al : Successful sirolimus treatment of patients with pure red cell aplasia complicated with renal insufficiency. Ann Hematol 99 : 737-741, 2020.
PubMed
16) Yang Y, Tang Z, Huang Y, et al : Sirolimus versus cyclosporine A in patients with primary acquired pure red cell aplasia : a prospective cohort study. Blood Cancer J 13 : 74, 2023.
 
P.75 掲載の参考文献
1) 赤芽球癆診療の参照ガイド改訂版作成のためのワーキンググループ : 赤芽球癆診療の参照ガイド 令和4年度改訂版. 2023. [http://zoketsushogaihan.umin.jp/file/2022/pure_red_cell_aplasia.pdf]
 
2) Saarinen UM, Chorba TL, Tattersall P, et al : Human parvovirus B19-induced epidemic acute red cell aplasia in patients with hereditary hemolytic anemia. Blood 67 : 1411-1417, 1986.
PubMed
3) Koduri PR : Parvovirus B19-related anemia in HIV-infected patients. AIDS Patient Care STDS 14 : 7-11, 2000.
PubMed
4) Eid AJ, Ardura MI, et al : Human parvovirus B19 in solid organ transplantation : Guidelines from the American society of transplantation infectious diseases community of practice. Clin Transplant 33 : e13535, 2019.
PubMed
5) Young NS, Brown KE : Parvovirus B19. N Engl J Med 350 : 586-597, 2004.
PubMed
6) 松倉晴道 : 本邦におけるヒトパルボウイルスB19の輸血副作用発生状況と安全対策. 日本輸血細胞治療学会誌 60 : 561-564, 2014.
Medical*Online
7) Cossart YE, Field AM, Cant B, et al : Parvovirus-like particles in human sera. Lancet 1 : 72-73, 1975.
PubMed
8) Brown KE, Anderson SM, Young NS : Erythrocyte P antigen : cellular receptor for B19 parvovirus. Science 262 : 114-117, 1993.
PubMed
9) Mortimer PP, Humphries RK, Moore JG, et al : A human parvovirus-like virus inhibits haematopoietic colony formation in vitro. Nature 302 : 426-429, 1983.
PubMed
10) Brown KE, Hibbs JR, Gallinella G, et al : Resistance to parvovirus B19 infection due to lack of virus receptor (erythrocyte P antigen). N Engl J Med 330 : 1192-1196, 1994.
PubMed
11) Anderson MJ, Higgins PG, Davis LR, et al : Experimental parvoviral infection in humans. J Infect Dis 152 : 257-265, 1985.
PubMed
12) 根上利宏, 太田正之, 奥田洽爾, ほか : 鉄欠乏性貧血患者に発症したparvovirus B19感染症による急性赤芽球癆の1例. 臨床血液 35 : 670-675, 1994.
 
13) Frickhofen N, Chen ZJ, Young NS, et al : Parvovirus B19 as a cause of acquired chronic pure red cell aplasia. Br J Haematol 87 : 818-824, 1994.
PubMed
14) 牧野茂義, 福田隆浩, 上田章 : 健康成人に発症したヒトパルボウイルスB19の持続感染による赤芽球癆の1例. 日本内科学会誌 90 : 323-325, 2001.
 
15) Crabol Y, Terrier B, Rozenberg F, et al : Intravenous immunoglobulin therapy for pure red cell aplasia related to human parvovirus b19 infection : a retrospective study of 10 patients and review of the literature. Clin Infect Dis 56 : 968-977, 2013.
PubMed
P.81 掲載の参考文献
1) Crookston JH, Godwin TF, Wightman KJR, et al : Congenital Dyserythropoietic Anemia. Abstracts from XIth Congress of the International Society of Haematology. pp18, Sydney, 1966.
 
2) Roy NBA, Babbs C : The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. Br J Haematol 185 : 436-449, 2019.
PubMed
3) Iolascon A, Esposito MR, Russo R : Clinical aspects and pathogenesis of congenital dyserythropoietic anemias : from morphology to molecular approach. Haematologica 97 : 1786-1794, 2012.
PubMed
4) Iolascon A, Andolfo I, Russo R : Congenital dyserythropoietic anemias. Blood 136 : 1274-1283, 2020.
PubMed
5) 多賀崇, 伊藤剛, 浅見恵子, ほか : Congenital Dyserythropoietic Anemia の全国調査. 日本小児血液学会雑誌 22 : 233-238, 2008.
Medical*Online
6) Hamada M, Doisaki S, Okuno Y, et al : Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. Int J Hematol 108 : 306-311, 2018.
PubMed
7) Arnaud L, Saison C, Helias V, et al : A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 87 : 721-727, 2010.
PubMed
8) Russo R, Andolfo I, Manna F, et al : Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Am J Hematol 93 : 672-682, 2018.
PubMed
9) Muramatsu H, Okuno Y, Yoshida K, et al : Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genet Med 19 : 796-802, 2017.
 
10) Rangarajan HG, Stanek JR, Abdel-Azim H, et al : Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia : A Report from the Pediatric Transplant and Cellular Therapy Consortium. Transplant Cell Ther 28 : 329.e1-329.e9, 2022.
 
11) Fattizzo B, Motta I : Rise of the planet of rare anemias : An update on emerging treatment strategies. Front Med (Lausanne) 9 : 1097426, 2022.
PubMed
12) Dessy-Rodriguez M, Fananas-Baquero S, Venturi V, et al : Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II. Blood 138 (Suppl 1) : 1994, 2021.
 
P.84 掲載の参考文献
1) Esposito G, Dottori L, Pivetta G, et al : Pernicious anemia ; The hematological presentation of a multifaceted disorder caused by cobalamin deficiency. Nutrients 14 : 1672, 2022.
PubMed
2) Toh BH, van Driel IR, Gleeson PA : Pernicious anemia. N Engl J Med 337 : 1441-1448, 1997.
PubMed
3) Carmel R, Agrawal YP : Failures of cobalamin assays in pernicious anemia. N Engl J Med 367 : 385-386, 2012.
PubMed
4) 宍戸努, 廣島由紀, 植松望武, ほか : 血清ビタミンB12が正常値を呈しmecobalamin投与によって改善した悪性貧血. 臨床血液 59 : 675-681, 2018.
 
5) Hershko C, Camaschella C : How I treat unexplained refractory iron deficiency anemia. Blood 123 : 326-333, 2014.
 
6) Green R, Kuhl W, Jacobson R, et al : Masking of macrocytosis by alpha-thalassemia in black with pernicious anemia. N Engl J Med 307 : 1322-1325, 1982.
PubMed
7) Wang H, Li L, Qin LL, et al : Oral vitamin B12 versus intramuscular vitamin B12 for vitamin B12 deficiency. Cochrane Database Syst Rev 3 : CD004655, 2018.
 
8) Vannella L, Lahner E, Osborn J, et al : Systematic review : gastric cancer incidence in pernicious anaemia. Aliment Pharmacol Ther 37 : 375-382, 2013.
PubMed
P.87 掲載の参考文献
1) Watkins D, Rosenblatt DS : Inborn Errors of Cobalamin Absorption and Metabolism. Am J Med Genet C Semin Med Genet 157 : 33-44, 2011.
 
2) McIntyre OR, Sullivan LW, Jeffries GH, et al : Pernicious anemia in childhood. N Engl J Med 272 : 981-986, 1965.
 
3) Tanner SM, Sturm AC, Baack EC, et al : Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. Orphanet J Rare Dis 7 : 56, 2012.
PubMed
4) Ruan J, Han B, Zhuang J, et al : Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report. BMC Med Genet 21 : 221, 2020.
 
5) Gordon MM, Brada N, Remacha A, et al : A Genetic Polymorphism in the Coding Region of the Gastric Intrinsic Factor Gene (GIF) Is Associated With Congenital Intrinsic Factor Deficiency. Hum Mutat Mutation 23 : 85-91, 2004.
PubMed
6) Tanner SM, Li Z, Perko JD, et al : Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci USA 102 : 4130-4133, 2005.
PubMed
7) Katz M, Lee SK, Cooper BA : Vitamin B12 malabsorption due to a biologically inert intrinsic factor. N Engl J Med 287 : 425-429, 1972.
PubMed
8) Katz M, Mehlman CS, Allen RH : Isolation and characterization of an abnormal human intrinsic factor. J Clin Invest 53 : 1274-1283, 1974.
PubMed
9) Lambert HP, Prankerd TA, Smellie JM : Pernicious anemia in childhood. A report of two cases in one family and their relationship to the etiology of pernicious anemia. Q J Med 30 : 71-90, 1961.
 
10) Chanarin I, James D : Humoral and cell-mediated intrinsic-factor antibody in pernicious anemia. Lancet 303 : 1078-1080, 1974.
 
11) Parry TE : The diagnosis of megaloblastic anaemia. Clin Lab Haematol 2 : 89-109, 1980.
PubMed
12) Bolaman Z, Kadikoylu G, Yukselen V, et al : Oral versus intramuscular cobalamin treatment in megaloblastic anemia : a single-center, prospective, randomized, open-label study. Clin Ther 25 : 3124-3134, 2003.
PubMed
P.89 掲載の参考文献
1) Imersland O : Idiopathic chronic megaloblastic anemia in children. Acta Paediatr Suppl (Upps) 49 (Suppl 119) : 1-115, 1960.
 
2) Grasbeck R, Gordin R, Kantero I, et al : Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. Acta Med Scand 167 : 289-296, 1960.
PubMed
3) Grasbeck R : Imerslund-Grasbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Orphanet J Rare Dis 1 : 17, 2006.
PubMed
4) Tanner SM, Li Z, Bisson R, et al : Genetically heterogenous selective intestinal malabsorption of vitamin B12 : Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Mddle East. Hum Mutat 23 : 327-333, 2004.
PubMed
5) Beech CM, Liyanarachchi S, Shah NP, et al : Ancient founder mutation is responsible for Imerslund-Grasbeck Syndrome among diverse ethnicities. Orphanet J Rare Dis 6 : 74, 2011.
PubMed
6) Namour F, Dobrovoljski G, Chery C, et al : Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica 96 : 1715-1719, 2011.
PubMed
7) Elshinawy M, Gao HH, AI-Nabhani DM, et al : Clinical and Molecular characteristics of Imerslund-Grasbeck syndrome : First report of Novel Frameshift variant Exon 11 of AMN gene. Int J Lab Hematol 43 : 1009-1015, 2021.
 
8) Grasbeck R, Kvist G : Congenital specific vitamin B 12 malabsorption syndrome with proteinuria. Munch Med Wochenschr 109 : 1936-1944, 1967.
PubMed
9) Bor MV, Cetin M, Aytac S, et al : Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. Clin Chem 51 : 2151-2155, 2005.
PubMed
10) Gangarossa S, Romano V, Schiliro G : Efficacy of oral administration of high-dose cobamamide in a patient with Imerslund-Grasbeck syndrome. Pediatr Hematol Oncol 13 : 387-389, 1996.
 
11) Boina Abdallah A, Ogier de Baulny H, Kozyraki R, et al : How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B (12) absorption? Mol Genet Metab 107 : 66-71, 2012.
PubMed
P.94 掲載の参考文献
1) Labay V, Raz T, Baron D, et al : Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 22 : 300-304, 1999.
PubMed
2) Porter FS, Rogers LE, Sidbury JB Jr : Thiamine-responsive megaloblastic anemia. J Pediatr 74 : 494-504, 1969.
PubMed
3) Fleming JC, Tartaglini E, Steinkamp MP, et al : The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 22 : 305-308, 1999.
PubMed
4) Diaz GA, Banikazemi M, Oishi K, et al : Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 22 : 309-312, 1999.
 
5) Dutta B, Huang W, Molero M, et al : Cloning of the human thiamine transporter, a member of the folate transporter family. J Biol Chem 274 : 31925-31929, 1999.
PubMed
6) Zhang S, Qiao Y, Wang Z, et al : Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia. Clin Chim Acta 516 : 157-168, 2021.
 
7) Reidling JC, Lambrecht N, Kassir M, et al : Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. Gastroenterology 138 : 1802-1809, 2010.
PubMed
8) Ozand PT, Gascon GG, Al Essa M, et al : Biotin-responsive basal ganglia disease : a novel entity. Brain 121 (Pt 7) : 1267-1279, 1998.
 
9) Boros LG, Steinkamp MP, Fleming JC, et al : Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). Blood 102 : 3556-3561, 2003.
PubMed
10) Bergmann AK, Sahai I, Falcone JF, et al : Thiamine-responsive megaloblastic anemia : identification of novel compound heterozygotes and mutation update. J Pediatr 155 : 888-892.e1, 2009.
 
11) Akin L, Kurtoglu S, Kendirci M, et al : Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome? J Clin Res Pediatr Endocrinol 3 : 36-39, 2011.
PubMed
12) Warncke K, Prinz N, Iotova V, et al : Thiamine-Responsive Megaloblastic Anemia-Related Diabetes : Long-Term Clinical Outcomes in 23 Pediatric Patients From the DPV and SWEET Registries. Can J Diabetes 45 : 539-545, 2021.
PubMed
P.98 掲載の参考文献
1) AI Absi HS, Sacharow S, AI Zein N, et al : Hereditary orotic aciduria (HOA) : A novel uridine-5-monophosphate synthase (UMPS) mutation. Mol Genet Metab Rep 26 : 100703, 2021.
 
2) Huguley CM Jr, Bain JA, Rivers SL, et al : Refractory megaloblastic anemia associated with excretion of orotic acid. Blood 14 : 615-634, 1959.
PubMed
3) Sumi S, Suchi M, Kidouchi K, et al : Pyrimidine metabolism in hereditary orotic aciduria. J Inherit, Metab Dis 20 : 104-105, 1997.
PubMed
4) Imaeda M, Sumi S, Imaeda H, et al : Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms. Tohoku J Exp Med 185 : 67-70, 1998.
PubMed
5) Salerno C, Crifo C : Diagnostic value of urinary orotic acid levels : applicable separation methods. J Chromatogr B Analyt Technol Biomed Life Sci 781 : 57-71, 2002.
PubMed
6) Suchi M, Mizuno H, Kawai Y, et al : Molecular Cloning of the Human UMP synthase Gene and Characterization of point Mutations in two Hereditary Orotic Aciduria Families. Am J Hum Genet 60 : 525-539, 1997.
PubMed
7) Brosnan ME, Brosnan JT : Orotic acid excretion and arginine metabolism. J Nutr 137 (6 Suppl 2) : 1656S-1661S, 2007.
 
8) Becroft DMO, Phillips LI : Hereditary Orotic Aciduria and Megaloblastic Anaemia : A Second Case, with Response to Uridine. Br Med J 1 : 547-552, 1965.
 
9) Grohmann K, Lauffer H, Lauenstein P, et al : Hereditary orotic aciduria with epilepsy and without megaloblastic anemia. Neuropediatrics 46 : 123-125, 2015.
PubMed
10) Ohba Y, Takasu M, Nishii N, et al : Japanese black cattle with orotic aciduria detected by gaschromatography/mass-spectrometry. J Vet Med Sci 69 : 313-316, 2007.
 
11) Staretz-Chacham O, Damseh NS, Daas S, et al : Hereditary orotic aciduria identified by newborn screening. Front Genet 14 : 1135267, 2023.
PubMed
12) Weinberg ME, Roman MC, Jacob P, et al : Enhanced uridine bioavailability following administration of a triacetyluridine-rich nutritional supplement. PLoS One 6 : e14709, 2011.
PubMed
P.101 掲載の参考文献
1) Arakawa T, Ohara K, Takahashi Y, et al : Formiminotransferase-deficiency syndrome : a new inborn error of folic acid metabolism. Ann Pediatr 205 : 1-11, 1965.
 
2) Arakawa T, Tamura T, Ohara K, et al : Familial occurrence of formiminotransferase deficiency of syndrome. Tohoku J Exp Med 96 : 211-217, 1968.
PubMed
3) Arakawa T, Ohara K, Kudo Z, et al : "Hyperfolic-acidemia with formiminoglutamic-aciduria following histidine loading". Suggfsted for a case of congenital deficiency in formiminotransferase. Tohoku J Exp Med 80 : 370-382, 1963.
PubMed
4) Majumdar R, Yori A, Rush PW, et al : Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. Mo Gene Genomic Med 5 : 795-799, 2017.
 
5) Rowe PB : Inherited disorders of folate metabolism. In : The Metabolic Basis of Inherited Disease. (ed by Stanbury JB, Wyngaarden JB, Fredrickson DS, et al), p498, McGraw-Hill, New York, 1983.
 
6) Hilton JF, Christensen KE, Watkins D, et al : The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat 22 : 67-73, 2003.
PubMed
7) Solans A, Estivill X, de la Luna S : Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. Cytogenet Cell Genet 88 : 43-49, 2000.
PubMed
8) Perry TL, Applegarth DA, Evans ME, et al : Metabolic studies of a family with massive formiminoglutamic aciduria. Pediatr Res 9 : 117-122, 1975.
PubMed
9) Rosenblatt DS, et al : Inherited disorders of folate transport and metabolism. In : The Metabolic and Molecular Bases of Inherited Disease, 7th ed (ed by Sciver CR, et al), p3111-3128, McGraw-Hill, New York, 1995.
 
10) Russell A, Statter M, Abzug-Horowitz S : Methionine dependent glutamic acid formiminotransferase deficiency : human and experimental studies in its therapy. Monogr Hum Genet 9 : 65-74, 1978.
PubMed
11) Duran M, Ketting D, de Bree PK, et al : A case of formiminoglutamic aciduria. Clinical and biochemical studies. Eur J Pediatr 136 : 319-323, 1981.
PubMed
P.106 掲載の参考文献
1) 松田晃 : 巨赤芽球性貧血, 日本内科学会雑誌 95 : 2010-2015, 2006.
 
2) 寺島雅史 : 胃全摘後長期生存患者の栄養評価, 日本消化器外科学会雑誌 27 : 1737-1746, 1994.
 
3) Omine M : Megaloblastic anemia-questions left unanswered in the 20th century. Int J Hematology (Suppl 1) : 8, 2000. (video)
 
4) 友田正信 : 胃全摘出後の物質代謝 XIV. 胃全摘後の貧血. 日本外科全書 19 巻, p313-320, 金原出版, 南江堂, 1957.
 
5) Beyan C, Beyan E, Kaptan K, et al : Post-gastrectomy anemia : evaluation of 72 cases with post-gastrectomy anemia. Hematology 12 : 81-84, 2007.
PubMed
6) Heinrich HC : Metabolic Basis of the Diagnosis and Therapy of Vitamin B12 Deficiency, Semin Hematol 1 : 199-249, 1964.
PubMed
7) Jun JH, Yoo JE, Lee JA, et al : Anemia after gastrectomy in long-term survivors of gastric cancer : A retrospective cohort study, Int J Surg 28 : 162-168, 2016.
PubMed
8) Hu Y, Kim HI, Hyung WJ, et al : Vitamin B (12) deficiency after gastrectomy for gastric cancer : an analysis of clinical patterns and risk factors. Ann Surg 258 : 970-975, 2013.
PubMed
9) 大口純人, 井上文央, 丹羽秀夫, ほか : 口腔内異常を伴う胃全摘術後の巨赤芽球性貧血, 日大口腔科学 44 : 165-169, 2018.
Medical*Online
10) Butler CC, Vidal-Alaball J, Cannings-John R, et al : Oral vitamin B12 versus intramuscular vitamin B12 for vitamin B12 deficiency : a systematic review of randomized controlled trials. Fam Pract 23 : 279-285, 2006.
PubMed
P.110 掲載の参考文献
1) Green R, Datta Mitra A : Folate, Cobalamin, and Megaloblastic Anemias. In : Williams' Hematology, 10th ed (ed by Kaushansky K, Lichtman MA, Prchal JT, et al), p639-672, McGraw-Hill, New York, 2021.
 
2) Carmel R : Megaloblastic Anemias : Disorders of Impaired DNA Synthesis. In : Wintrobe's Clinical Hematology, 14th ed (ed by Geer JP, Rodger GM, Glader B, et al), p927-958, Wolters Kluwer, Philadelphia, 2019.
 
3) Scott JM, Weir DG : Drug-induced megaloblastic change. Clin Haematol 9 : 587-606, 1980.
PubMed
4) Hesdorffer CS, Longo DL : Drug-Induced Megaloblastic Anemia. N Engl J Med 373 : 1649-1658, 2015.
PubMed
5) 小峰光博 : DNA合成障害による貧血. 三輪血液病学 第3版 (浅野茂隆, 池田康夫, 内山卓編), p974-1000, 文光堂, 2006.
 
6) Shander A, Javidroozi M, Ashton ME : Drug-induced anemia and other red cell disorders : a guide in the age of polypharmacy. Curr Clin Pharmacol 6 : 295-303, 2011.
PubMed
7) 金丸昭久 : 副作用各論重大な副作用血液巨赤芽球性貧血. 日本臨牀 65 (増刊 8 : 医薬品副作用学) : 482-486, 2007.
 
8) Bellou A, Aimone-Gastin I, De Korwin JD, et al : Cobalamin deficiency with megaloblastic anaemia in one patient under long-term omeprazole therapy. J Intern Med 240 : 161-164, 1996.
PubMed
9) Ruscin JM, Page RL 2nd, Valuck RJ : Vitamin B12 deficiency associated with histamine 2-receptor antagonists and a proton-pump inhibitor. Ann Pharmacother 36 : 812-816, 2002.
 
10) Vogelzang NJ, Rusthoven JJ, Symanowski J, et al : Phase III study of pemetrexed in combination with cisplatin versus cisplatin alone in patients with malignant pleural mesothelioma. J Clin Oncol 21 : 2636-2644, 2003.
PubMed
11) Hoffbrand AV, Necheles TF : Mechanism of folate deficiency in patients receiving phenytoin. Lancet 2 : 528-530, 1968.
PubMed
12) Kelly D, Weir D, Reed B, et al : Effect of anticonvulsant drugs on the rate of folate catabolism in mice. J Clin Invest 64 : 1089-1096, 1979.
PubMed
13) Reid C, Chanarin I : Effect of phenytoin on DNA synthesis by human bone marrow. Scand J Haematol 20 : 237-240, 1978.
PubMed
14) Halsted CH, Gandhi G, Tamura T : Sulfasalazine inhibits the absorption of folates in ulcerative colitis. N Engl J Med 305 : 1513-1517, 1981.
PubMed
15) Dali-Youcef N, Andres E : An update on cobalamin deficiency in adults. QJM 102 : 17-28, 2009.
PubMed
P.112 掲載の参考文献
1) 厚生労働科学研究費補助金子ども家庭総合研究事業 : タンデムマス等の新技術を導入した新しい新生児マススクリーニング体制の確立に関する研究 平成23年度報告書 (主任研究者山口清次), 2012.
 
2) Wiedemann A, Oussalah A, Lamireau N, et al : Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B (12) metabolism : A meta-analysis. Cell Rep Med 3 : 100670, 2022.
PubMed
P.118 掲載の参考文献
1) 楢崎秀彦, 浅野健 : ホモシスチン尿症. 別冊日本臨牀血液症候群 (第2版) p102-106, 日本臨牀社, 2013.
 
2) 長尾雅悦 : 指定難病最前線 (Volume 132) ホモシスチン尿症. 新薬と臨床 71 : 746-749, 2022.
 
3) 大澤好充, 山田健治 : 診断・治療可能な遺伝性疾患を見逃さないために先天代謝異常症ホモシスチン尿症. 小児科臨床 73 : 672-677, 2020.
 
4) 坂本修 : 知っておくべき治療可能な胎児・新生児希少疾患先天代謝異常ホモシスチン尿症. 周産期医学 48 : 1347-1351, 2018.
 
5) 東京都予防医学協会 : 新生児マススクリーニング検査の実績. [https://www.yobouigaku-tokyo.or.jp/baby/public_index.html] (2023年6月閲覧)
 
6) Morris AA, Kozich V, Santra S, et al : Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 40 : 49-74, 2017.
PubMed
7) 新生児マススクリーニング対象疾患等診療ガイドライン 2019 (日本先天代謝異常学会編), 診断と治療社, 2019.
 
8) Huemer M, Diodato D, Schwahn B, et al : Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis 40 : 21-48, 2017.
PubMed
9) 浅野茂隆, 池田康夫, 内山卓 (監) : 三輪血液病学. p7, p2070, 図版p2044, 文光堂, 2006.
 
10) Green R : Vitamin B12 deficiency from the perspective of a practicing hematologist. Blood 129 : 2603-2611, 2017.
PubMed
P.122 掲載の参考文献
1) 宮内潤, ほか : 巨赤芽球性貧血と悪性貧血. 骨髄疾患診断アトラス-血液形態と骨髄病理, 第2版 (宮内潤, 泉二登志子編), p33-36, 中外医学社, 2010.
 
2) 生田克也, ほか : 巨赤芽球性貧血. 血液診療エキスパート-貧血, (金倉譲, 中尾眞二, 伊藤悦郎, ほか編), p91-99, 中外医学社, 2010.
 
3) 小峰光博 : II. 赤血球, B. 赤血球の生化学と機能, 4. ビタミンB12と葉酸の代謝. 三輪血液病学, (浅野茂隆, 池田康夫, 内山卓監), p184-213, 文光堂, 2006.
 
4) 小峰光博 : III. 赤血球の疾患, 3. DNA 合成障害による貧血, c. 葉酸欠乏性巨赤芽球性貧血. 三輪血液病学, (浅野茂隆, 池田康夫, 内山卓監), p992-1000, 文光堂, 2006.
 
5) 田中勝, ほか : I章 赤血球系・骨髄増殖性疾患. D. 巨赤芽球性貧血. 専門医のための薬物療法 Q&A-血液, (富野康日己監, 押味和夫, 小松則夫, 長澤俊郎編), p36-42, 中外医学社, 2007.
 
6) 厚生省報道発表資料 : 「神経管閉鎖障害の発症リスク低減のための妊娠可能な年齢の女性等に対する葉酸の摂取に係る適切な情報提供の推進について」, 2000.
 
P.124 掲載の参考文献
1) Wiedemann A, Oussalah A, Lamireau N, et al : Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B (12) metabolism : A meta-analysis. Cell Rep Med 3 : 100670, 2022.
PubMed
2) Schuh S, Rosenblatt DS, Cooper BA, et al : Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. N Engl J Med 310 : 686-690, 1984.
PubMed
3) Watkins D, Rosenblatt DS : Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. J Clin Invest 81 : 1690-1694, 1988.
PubMed
4) Huemer M, Burer C, Jesina P, et al : Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. J Inherit Metab Dis 38 : 957-967, 2015.
PubMed
5) Watkins D, Ru M, Hwang HY, et al : Hyperhomocysteinemia due to methionine synthase deficiency, cblG : structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173 L. Am J Hum Genet 71 : 143-153, 2002.
 
P.128 掲載の参考文献
1) Banka S, Blom HJ, Walter J, et al : Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet 88 : 216-225, 2011.
PubMed
2) Cario H, Smith DE, Blom H, et al : Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet 88 : 226-231, 2011.
PubMed
3) Walters TR : Congenital megaloblastic anemia responsive to N5-formyl tetrafolic acid administration. J Pediatr 70 : 686-687, 1967.
 
4) Tauro GP, Danks DM, Rowe PB, et al : Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. N Engl J Med 294 : 466-470, 1976.
PubMed
5) 片山直之 : 巨赤芽球性貧血. 血液診療エキスパート-貧血, (金倉譲監, 中尾眞二, 伊藤悦郎, ほか編), p91-99, 中外医学社, 2010.
 
6) 濱崎浩之, 金丸昭久 : ジヒドロ葉酸還元酵素欠損症. 赤血球の異常. 巨赤芽球性貧血, 別冊日本臨牀領域別症候群 20, 血液症候群 I p139-141, 日本臨床社, 1998.
 
7) 小峰光博 : II. 赤血球, B. 赤血球の生化学と機能, 4. ビタミンB12と葉酸の代謝. 三輪血液病学, (浅野茂隆, 池田康夫, 内山卓監), p184-213, 文光堂, 2006.
 
8) 小峰光博 : III. 赤血球の疾患, 3. DNA合成障害による貧血, c. 葉酸欠乏性巨赤芽球性貧血. 三輪血液病学, (浅野茂隆, 池田康夫, 内山卓監), p992-1000, 文光堂, 2006.
 
9) 加納康彦, ほか : VII. 葉酸ならびにビタミンB12代謝とその異常. 最新内科学大系 I, 第18巻 貧血・多血症, p137-151, 中山書店, 1992.
 
P.131 掲載の参考文献
1) Suter PM : Vitamin and Trace Mineral Deficiency and Excess. In : Harrison's Principles of Internal Medicine, 21th Edition (ed by Loscalzo J, Fauci A, Kasper D, et al), p2565-2566, McGraw-Hill Education, New York, 2022.
 
2) 小峰光博 : 巨赤芽球性貧血. 三輪血液病学第3版 (浅野茂隆, 池田康夫, 内山卓編), p974-996, 文光堂, 2006.
 
3) Green R, Datta Mitra A : Anemia due to Other Nutritional Deficiencies. In : Williams Hematology, Tenth Edition (ed by Kaushansky K, Lichtman MA, Prchal JT, et al), p731-732, McGraw-Hill Education, New York, 2021.
 
4) 「日本人の食事摂取基準」策定委員会 : 日本人の食事摂取基準 (2020年版), 令和元年12月, [https://www.mhlw.go.jp/content/10904750/000586553.pdf]
 
5) Gitlin SD : Nutritional Anemias. In : Hematology for the Medical Student (ed by Schmaier AH, Petuzzill LM), p35-48 Lippincott Williams & Wilkins, Philadelphia, 2003.
 
6) Hoffbrand AV, Weir DG : The history of folic acid. Br J Haematol 113 : 579-589, 2001.
PubMed
7) Clark NG, Sheard NF, Kelleher JF : Treatment of iron-deficiency anemia complicated by scurvy and folic acid deficiency. Nutr Rev 50 : 134-137, 1992.
PubMed
8) 佐久間長彦 : ビタミンCの臨床. Modern Physician (福澤健治, 渡邊敏編) : 1251-1253, 2007.
 
9) 石神昭人 : 実際の健康食品・サプリメントビタミンC. 診断と治療 109 : 1057-1060, 2021.
 
P.134 掲載の参考文献
1) Moller JOL : Klinische Bemerkungen uber einige weniger bekannte Krankheiten der Zunge. Dtsch Klinik. 3 : 273-275, 1851.
 
2) Hunter W : Further observations on pernicious anemia (seven cases) : a chronic infective disease ; its relation to infection from the mouth and stomach ; suggested serum treatment. Lancet 1 : 221-224, 1900.
 
3) Graells J, Ojeda RM, Muniesa C, et al : Glossitis with linear lesions : an early sign of vitamin B12 deficiency. J Am Acad Dermatol 60 : 498-500, 2009.
PubMed
4) Ishizuka K, Katayama K, Ohira Y : Moeller-Hunter glossitis. BMJ Case Rep 15 : e251810, 2022.
PubMed
5) 任智美 : 診断に苦慮されたHunter舌炎の1例. 耳鼻咽喉科免疫アレルギー 38 : 9-12, 2020.
Medical*Online
6) Stabler SP : Clinical practice. Vitamin B12 deficiency. N Engl J Med 368 : 149-160, 2013.
PubMed
7) Kaptan K, Beyan C, Ural AU, et al : Helicobacter pylori-is it a novel causative agent in Vitamin B12 deficiency? Arch Intern Med 160 : 1349-1353, 2000.
PubMed
8) Vannella L, Lahner E, Osborn J, et al : Systematic review : gastric cancer incidence in pernicious anaemia. Aliment Pharmacol Ther 37 : 375-382, 2013.
PubMed
9) Takahashi N, Kameoka J, Takahashi N, et al : Causes of macrocytic anemia among 628 patients : mean corpuscular volumes of 114 and 130 fL as critical markers for categorization. Int J Hematol 104 : 344-357, 2016.
PubMed
10) Pruthi RK, Tefferi A : Pernicious anemia revisited. Mayo Clin Proc 69 : 144-150, 1994.
PubMed
11) Carmel R, Agrawal YP : Failures of cobalamin assays in pernicious anemia. N Engl J Med 367 : 385-386, 2012.
PubMed
12) Oberley MJ, Yang DT : Laboratory testing for cobalamin deficiency in megaloblastic anemia. Am J Hematol 88 : 522-526, 2013.
PubMed
13) Lindenbaum J, Savage DG, Stabler SP, et al : Diagnosis of cobalamin deficiency : II. Relative sensitivities of serum cobalamin, methylmalonic acid, and total homocysteine concentrations. Am J Hematol 34 : 99-107, 1990.
PubMed
14) Carmel R : Reassessment of the relative prevalences of antibodies to gastric parietal cell and to intrinsic factor in patients with pernicious anaemia : influence of patient age and race. Clin Exp Immunol 89 : 74-77, 1992.
PubMed
P.139 掲載の参考文献
1) Qudsiya Z, De Jesus O : Subacute Combined Degeneration of the Spinal Cord. In : StatPearls [Internet]. Treasure Island (FL) : StatPearls Publishing ; 2023.
 
2) 永石彰子, 黒田康夫 : ビタミンB12の吸収・代謝・利用と神経障害. 神経内科 61 : 319-323, 2004.
 
3) Bauman WA, Shaw S, Jayatilleke E, et al : Increased intake of calcium reverses vitamin B12 malabsorption induced by metformin. Diabetes Care 23 : 1227-1231, 2000.
PubMed
4) Lindenbaum J, Rosenberg IH, Wilson PW, et al : Prevalence of cobalamin deficiency in the Framingham elderly population. Am J Clin Nutr 60 : 2-11, 1994.
PubMed
5) Jain KK, Malhotra HS, Garg RK, et al : Prevalence of MR imaging abnormalities in vitamin B12 deficiency patients presenting with clinical features of subacute combined degeneration of the spinal cord. J Neurol Sci 342 : 162-166, 2014.
PubMed
6) 唐沢正光, 谷田部寛, 山内博正 : ビタミンB12欠乏による巨赤芽球性貧血51 症例の臨床病態. 臨床血液 25 : 1746-1753, 1984.
 
7) Lindenbaum J, Healton EB, Savage DG, et al : Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med 318 : 1720-1728, 1988.
 
8) Healton EB, Savage DG, Brust JC, et al : Neurologic aspects of cobalamin deficiency. Medicine (Baltimore) 70 : 229-245, 1991.
PubMed
9) Scott JM, Dinn JJ, Wilson P, et al : Pathogenesis of subacute combined degeneration : a result of methyl group deficiency. Lancet 2 : 334-337, 1981.
PubMed
10) Scalabrino G : Cobalamin (vitamin B (12)) in subacute combined degeneration and beyond : traditional interpretations and novel theories. Exp Neurol 192 : 463-479, 2005.
PubMed
11) Chatterjee A, Yapundich R, Palmer CA, et al : Leukoencephalopathy associated with cobalamin deficiency. Neurology 46 : 832-834, 1996.
PubMed
12) Cao J, Xu S, Liu C : Is serum vitamin B12 decrease a necessity for the diagnosis of subacute combined degeneration? : A meta-analysis. Medicine (Baltimore) 99 : e19700, 2020.
PubMed
13) Jaiser SR, Winston GP : Copper deficiency myelopathy. J Neurol 257 : 869-881, 2010.
PubMed
14) Kuzminski AM, Del Giacco EJ, Allen RH, et al : Effective treatment of cobalamin deficiency with oral cobalamin. Blood 92 : 1191-1198, 1998.
PubMed
15) Cao J, Su ZY, Xu SB, et al : Subacute Combined Degeneration : A Retrospective Study of 68 Cases with Short-Term Follow-Up. Eur Neurol 79 : 247-255, 2018.
PubMed
P.142 掲載の参考文献
1) Novacek G : Plummer-Vinson syndrome. Orphanet J Rare Dis 1 : 36, 2006.
PubMed
2) Plummer S : Diffuse dilatation of the esophagus without anatomic stenosis (cardiospasm). A report of ninety-one cases. J Am Med Assoc 58 : 2013-2015, 1912.
 
3) Vinson PP : A case of cardiospasm with dilatation and angulation of the esophagus. Med Clin North Am 3 : 623-627, 1919.
 
4) Vinson PP : Hysterical dysphagia. Minnesota Med 5 : 107-108, 1922.
 
5) Paterson DR : A clinical type of dysphagia. J Laryngol Otol 34 : 289-291, 1919.
 
6) Kelly AB : Spasm at the entrance of the esophagus. J Laryngol Otol 34 : 285-289, 1919.
 
7) Wynder EL, Hultberg S, Jacobsson F, et al : Environmental factors in cancer of the upper alimentary tract ; a Swedish study with special reference to Plummer-Vinson (Paterson-Kelly) syndrome. Cancer 10 : 470-487, 1957.
PubMed
8) Nosher JL, Campbel WL, Seaman WB : The clinical significance of cervical esophageal and hypopharyngeal webs. Radiology 117 : 45-47, 1975.
PubMed
9) Chen TS, Chen PS : Rise and fall of the Plummer-Vinson syndrome. J Gastroenterol Hepatol 9 : 654-658, 1994.
PubMed
10) Dantas RO, Villanova MG : Esophageal motility impairment in Plummer-Vinson syndrome. Correction by iron treatment. Dig Dis Sci 38 : 968-971, 1993.
PubMed
11) Miranda AL, Dantas RO : Esophageal contractions and oropharyngeal and esophageal transits in patients with iron deficiency anemia. Am J Gastroenterol 98 : 1000-1004, 2003.
PubMed
12) Dickey W, McConnell B : Celiac disease presenting as the Paterson-Brown Kelly (Plummer-Vinson) syndrome. Am J Gastroenterol 94 : 527-529, 1999.
 
13) Hoffman RM, Jaffe PE : Plummer-Vinson syndrome. A case report and literature review. Arch Intern Med 155 : 2008-2011, 1995.
PubMed
14) Chisholm M : The association between webs, iron and post-cricoid carcinoma. Postgrad Med J 50 : 215-219, 1974.
PubMed
15) Larsson LG, Sandstrom A, Westling P : Relationship of Plummer-Vinson disease to cancer of the upper alimentary tract in Sweden. Cancer Res 35 : 3308-3316, 1975.
PubMed
P.146 掲載の参考文献
1) Danford DE : Pica and nutrition. Annu Rev Nutr 2 : 303-322, 1982.
PubMed
2) Moore DFJr, Sears DA : Pica, iron deficiency, and the medical history. Am J Med 97 : 290-393, 1994.
 
3) Harries JM, Hughes TF : Enumeration of the cravings of some pregnant women. Br Med J 2 : 39-40, 1958.
PubMed
4) Keith LG, Rosenberg CD, Brown E : Pica, pagophagia, and anemia. JAMA 208 : 535, 1969.
PubMed
5) Homer RD, Lackey CI, Kolasa K, et al : Pica practices of pregnant women. J Am Diet Assoc 91 : 34-38, 1991.
 
6) Mohan M, Agarwal KN, Bhutt I, et al : Iron therapy in pica. J Indian Med Assoc 51 : 16-18, 1968.
 
7) Halsted JA : Geophagia in man : its nature and nutritional effects. Am J Clin Nutr 21 : 1384-1393, 1968.
PubMed
8) Jacobziner H, Raybin HW : Gluthethimide (doriden) poisoning. Arch Pediatr (NY) 79 : 302-305, 1962.
 
9) Reynolds RD, Binder HJ, Miller MB, et al : Pagophagia and iron deficiency anemia. Ann Intern Med 69 : 435-440, 1968.
PubMed
10) Kluver H, Bucy PC : Preliminary analysis of functions of the temporal lobes in monkeys. 1939. J Neuropsychiatry Clin Neurosci 9 : 606-620, 1997.
PubMed
11) Danford DE, Huber AM : Pica among mentally retarded adults. Am J Ment Defic 87 : 141-146, 1982.
PubMed
12) Mahaffey KR : Predicting blood lead concentrations from lead in environmental media. Environ Health Perspect 106 (Suppl 6) : 1485-1493, 1998.
 
13) Haley TJ : Saturnism, pediatric and adult lead poisoning. Clin Toxicol 4 : 11-29, 1971.
PubMed
14) Rector WG Jr : Pica : its frequency and significance in patients with iron-deficiency anemia due to chronic gastrointestinal blood loss. J Gen Intern Med 4 : 512-513, 1989.
PubMed
15) Gardner JE, Tevetoglu F : The roentgenographic diagnosis of geophagia (dirt-eating) in children : a report of sixty cases. J Pediatr 51 : 667-671, 1957.
 
P.150 掲載の参考文献
1) Hershko C, Camaschella C : How I treat unexplained refractory iron deficiency anemia. Blood 123 : 326-333, 2014.
 
2) De Amicis MM, Rimondi A, Elli L, et al : Acquired Refractory Iron Deficiency Anemia. Mediterr J Hematol Infect Dis 13 : e2021028, 2021.
 
3) Cardenas VM, Mulla ZD, Ortiz M, et al : Iron deficiency and Helicobacter pylori infection in the United States. Am J Epidemiol 163 : 127-134, 2006.
PubMed
4) Malfertheiner P, Megraud F, O'Morain CA, et al : Management of Helicobacter pylori infection-the Maastricht V/Florence Consensus Report. Gut 66 : 6-30, 2017.
PubMed
5) Chey WD, Leontiadis GI, Howden CW, et al : ACG Clinical Guideline : Treatment of Helicobacter pylori Infection. Am J Gastroenterol 112 : 212-239, 2017.
PubMed
6) Finberg KE, Heeney MM, Campagna DR, et al : Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet 40 : 569-571, 2008.
PubMed
7) Hershko C, Hoffbrand AV, Keret D, et al : Role of autoimmune gastritis, Helicobacter pylori and celiac disease in refractory or unexplained iron deficiency anemia. Haematologica 90 : 585-595, 2005.
PubMed
8) Hershko C, Skikne B : Pathogenesis and management of iron deficiency anemia : emerging role of celiac disease, helicobacter pylori, and autoimmune gastritis. Semin Hematol 46 : 339-350, 2009.
PubMed
9) Mims MP, Guan Y, Pospisilova D, et al : Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood 105 : 1337-1342, 2005.
 
10) Beutler E, Gelbart T, Lee P, et al : Molecular characterization of a case of atransferrinemia. Blood 96 : 4071-4074, 2000.
PubMed
11) Annibale B, Capurso G, Lahner E, et al : Concomitant alterations in intragastric pH and ascorbic acid concentration in patients with Helicobacter pylori gastritis and associated iron deficiency anaemia. Gut 52 : 496-501, 2003.
PubMed
12) Yip R, Limburg PJ, Ahlquist DA, et al : Pervasive occult gastrointestinal bleeding in an Alaska native population with prevalent iron deficiency. Role of Helicobacter pylori gastritis. JAMA 277 : 1135-1139, 1997.
 
13) Perez-Perez GI, Israel DA : Role of iron in Helicobacter pylori : its influence in outer membrane protein expression and in pathogenicity. Eur J Gastroenterol Hepatol 12 : 1263-1265, 2000.
PubMed
14) Yokota S, Konno M, Mino E, et al : Enhanced Fe ion-uptake activity in Helicobacter pylori strains isolated from patients with iron-deficiency anemia. Clin Infect Dis 46 : e31-33, 2008.
PubMed
15) Dhaenens L, Szczebara F, Husson MO : Identification, characterization, and immunogenicity of the lactoferrin-binding protein from Helicobacter pylori. Infect Immun 65 : 514-518, 1997.
PubMed
16) Choe YH, Oh YJ, Lee NG, et al : Lactoferrin sequestration and its contribution to iron-deficiency anemia in Helicobacter pylori-infected gastric mucosa. J Gastroenterol Hepatol 18 : 980-985, 2003.
PubMed
17) Finberg KE, Whittlesey RL, Fleming MD, et al : Down-regulation of Bmp/Smad signaling by Tmprss 6 is required for maintenance of systemic iron homeostasis. Blood 115 : 3817-3826, 2010.
 
18) Ramsay AJ, Hooper JD, Folgueras AR, et al : Matriptase-2 (TMPRSS6) : a proteolytic regulator of iron homeostasis. Haematologica 94 : 840-849, 2009.
PubMed
19) Ganz T : Hepcidin and iron regulation, 10 years later. Blood 117 : 4425-4433, 2011.
PubMed
20) Sato T, Iyama S, Murase K, et al : Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia. Int J Hematol 94 : 101-103, 2011.
 
21) Kodama K, Noguchi A, Adachi H, et al : Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia. Pediatr Int 56 : e41-e44, 2014.
PubMed
P.155 掲載の参考文献
1) Heilmeyer L, Keller W, Vivell O, et al : Congenital atransferrinemia in a 7-year-old girl. Dtsch Med Wochenschr 86 : 1745-1751, 1961.
 
2) Cap J, Lehotska V, Mayerova A : Congenital atransferrinemia in a 11-month-old child. Cesk Pediatr 23 : 1020-1025, 1968.
 
3) Shamsian BS, Rezaei N, Arzanian MT, et al : Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. Pediatr Hematol Oncol 26 : 356-362, 2009.
 
4) Dabboubi R, Amri Y, Yahyaoui S, et al : A new case of congenital atransferrinemia with a novel splice site mutation : c.293-63del. Eur J Med Genet 63 : 103874, 2020.
PubMed
5) Hamill RL, Woods JC, Cook BA : Congenital atransferrinemia. A case report and review of th litrature. Am J Clin Pathol 96 : 215-218, 1991.
 
6) 坂田堯 : 先天性トランスフェリン欠乏症の1例. 小児科診療 32 : 1523-1528, 1969.
 
7) Goya N, Miyazaki S, Kodate S, et al : A family of congenital atransferrinemia. Blood 40 : 239-245, 1972.
PubMed
8) Beutler E, Gelbart T, Lee P, et al : Molecular characterization of a case of atransferrinemia. Blood 96 : 4071-4074, 2000.
PubMed
9) Athiyarath R, Arora N, Fuster F, et al : Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis : molecular characterization and structural implications. Br J Haematol 163 : 404-407, 2013.
PubMed
10) Asada-Senju M, Maeda T, Sakata T, et al : Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia. J Hum Genet 47 : 355-359, 2002.
 
11) 山口俊一朗, ほか : 先天性無トランスフェリン血症. 別冊日本臨牀血液症候群 (第2版) I, p139-142, 2013.
 
12) Camaschella C, Pagani A, Silvestri L, et al : The mutual crosstalk between iron and erythropoiesis. Int J Hematol 116 : 182-191, 2022.
PubMed
13) Cappellini MD, Russo R, Andolfo I, et al : Inherited microcytic anemias. Hematology Am Soc Hematol Educ Program 2020 : 465-470, 2020.
PubMed
14) Piperno A, Pelucchi S, Mariani R : Inherited iron overload disorders. Transl Gastorenterol Hepatol 5 : 25, 2020.
PubMed
15) Chandra D, Dhingra B, Seth T, et al : Congenital Hypotransferrinemia, an Unusual Cause of Iron Deficiency Anemia : Report of Two Cases. Indian J Hematol Blood Transfus 33 : 402-404, 2017.
PubMed
16) Boshuizen M, van der Ploeg K, von Bonsdorff L, et al : Therapeutic use of transferrin to modulate anemia and conditions of iron toxicity. Blood Rev 31 : 400-405, 2017.
PubMed
17) Aslan D : Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia : A 10-year observational follow-up with the effects on hematological parameters and growth. Pediatr Blood Cancer 65 : e26789, 2018.
 
P.157 掲載の参考文献
1) Boshuizen M, van der Ploeg K, von Bonsdorff L, et al : Therapeutic use of transferrin to modulate anemia and conditions of iron toxicity. Blood Rev 31 : 400-405, 2017.
PubMed
2) Idzerda RL, Huebers H, Finch CA, et al : Rat transferrin gene expression : tissue-specific regulation by iron deficiency. Proc Natl Acad Sci USA 83 : 3723-3727, 1986.
PubMed
3) Rolfs A, Kvietikova I, Gassmann M, et al : Oxygen-regulated transferrin expression is mediated by hypoxia-inducible factor-1. J Biol Chem 272 : 20055-20062, 1997.
PubMed
4) Nakata K, Saitoh R, Amano J, et al : Alteration of intracellular secretory acute phase response proteins expressed in human hepatocyte induced by exposure with interleukin-6. Cytokine 59 : 317-323, 2012.
PubMed
5) Bartnikas TB : Known and potential roles of transferrin in iron biology. Biometals 25 : 677-686, 2012.
PubMed
6) Ritchie RF, Palomaki GE, Neveux LM, et al : Reference distributions for the negative acute-phase serum proteins, albumin, transferrin and transthyretin : a practical, simple and clinically relevant approach in a large cohort. J Clin Lab Anal 13 : 273-279, 1999.
 
7) Borini P, Guimaraes RC : Liver synthesis function in chronic asymptomatic or oligosymptomatic alcoholics : correlation with other liver tests. Rev Hosp Clin Fac Med Sao Paulo 54 : 97-102, 1999.
 
8) Descombes E, Fellay G : Hypotransferrinemia in chronic hemodialyzed (HD) patients. Artif Organs 24 : 988-989, 2000.
PubMed
9) Prinsen BHCMT, Velden MGMS, Kaysen GA, et al : Transferrin synthesis is increased in nephrotic patients insufficiently to replace urinary losses. J Am Soc Nephrol 12 : 1017-1025, 2001.
PubMed
10) Aman J, van der Heijden M, van Lingen A, et al : Plasma protein levels are markers of pulmonary vascular permeability and degree of lung injury in critically ill patients with or at risk for acute lung injury/acute respiratory distress syndrome. Crit Care Med 39 : 89-97, 2011.
PubMed
11) Raynor A, Stefanescu C, Bruneel A, et al : Reversible atransferrinemia in a patient with chronic enteropathy : is transferrin mandatory for iron transport? Biochem Med (Zagreb) 33 : 010801, 2023.
 
12) Finch CA, Huebers H : Perspectives in iron metabolism. N Engl J Med 306 : 1520-1528, 1982.
PubMed
13) Gottschalk R, Wigand R, Dietrich CF, et al : Total iron-binding capacity and serum transferrin determination under the influence of several clinical conditions. Clin Chim Acta 293 : 127-138, 2000.
PubMed
14) Beutler E, Gelbart T, Lee P, et al : Molecular characterization of a case of atransferrinemia. Blood 96 : 4071-4074, 2000.
PubMed
P.161 掲載の参考文献
1) 寺田秀夫 : Hayem-Faber 症候群. 別冊日本臨牀血液症候群 (第2版) I, p146-149, 日本臨牀社, 2013.
 
2) 小松則夫 : 鉄欠乏性貧血. 診断と治療 110 : 1029-1034, 2022.
Medical*Online
3) Hashimoto R, Matsuda T, Chonan A : Iron-deficiency anemia caused by a proton pump inhibitor. Intern Med 53 : 2297-2299, 2014.
PubMed
P.165 掲載の参考文献
1) Ducamp S, Fleming MD : The molecular genetics of sideroblastic anemia. Blood 133 : 59-69, 2019.
PubMed
2) Guernsey DL, Jiang H, Campagna DR, et al : Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet 41 : 651-653, 2009.
PubMed
3) Grandchamp B, Hetet G, Kannengiesser C, et al : A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. Blood 118 : 6660-6666, 2011.
PubMed
4) Rademakers LH, Koningsberger JC, Sorber CW, et al : Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria. Eur J Clin Invest 23 : 130-138, 1993.
PubMed
5) Camaschella C, Campanella A, De Falco L, et al : The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. Blood 110 : 1353-1358, 2007.
PubMed
6) Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, et al : Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood 126 : 2734-2738, 2015.
PubMed
7) Crispin A, Guo C, Chen C, et al : Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. J Clin Invest 130 : 5245-5256, 2020.
 
8) Bykhovskaya Y, Casas K, Mengesha E, et al : Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74 : 1303-1308, 2004.
PubMed
9) Riley LG, Cooper S, Hickey P, et al : Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. Am J Hum Genet 87 : 52-59, 2010.
PubMed
10) Riley LG, Rudinger-Thirion J, Schmitz-Abe K, et al : LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep 28 : 49-57, 2016.
PubMed
11) Neufeld EJ, Fleming JC, Tartaglini E, et al : Thiamine-responsive megaloblastic anemia syndrome : a disorder of high-affinity thiamine transport. Blood Cells Mol Dis 27 : 135-138, 2001.
PubMed
12) Chakraborty PK, Schmitz-Abe K, Kennedy EK, et al : Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood 124 : 2867-2871, 2014.
PubMed
13) Bergmann AK, Campagna DR, McLoughlin EM, et al : Systematic molecular genetic analysis of congenital sideroblastic anemia : evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer 54 : 273-278, 2010.
PubMed
14) Ohba R, Furuyama K, Yoshida K, et al : Clinical and genetic characteristics of congenital sideroblastic anemia : comparison with myelodysplastic syndrome with ring sideroblast (MDSRS). Ann Hematol 92 : 1-9, 2013.
PubMed
15) 遺伝性鉄芽球性貧血の診断基準と診療の参照ガイド改訂版作成のためのワーキンググループ : 遺伝性鉄芽球性貧血診療の参照ガイド 令和1年改訂版, 2020.
 
P.169 掲載の参考文献
1) Cooley TB : A severe type of hereditary anemia with elliptocytosis : interesting sequence of splenectomy. Am J Med Sci 209 : 561-568, 1945.
 
2) Rundles RW, Falls HF : Hereditary (sex-linked?) anemia. Am J Med Sci 211 : 641-658, 1946.
PubMed
3) Cotter PD, Rucknagel DL, Bishop DF : X-linked sideroblastic anemia : identification of the mutation in the erythroid-specific δ-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood 84 : 3915-3924, 1994.
 
4) Lichtenstein DA, Crispin AW, Sendamarai AK, et al : A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Blood 128 : 1913-1917, 2016.
PubMed
5) Allikmets R, Raskind WH, Hutchinson A, et al : Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 8 : 743-749, 1999.
 
6) Fujiwara T, Harigae H : Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. Free Radic Biol Med 133 : 179-185, 2019.
PubMed
7) Ducamp S, Kannengiesser C, Touati M, et al : Sideroblastic anemia : molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Hum Mutat 32 : 590-597, 2011.
 
8) Aivado M, Gattermann N, Rong A, et al : X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells Mol Dis 37 : 40-45, 2006.
PubMed
9) Pagon RA, Bird TD, Detter JC, et al : Hereditary sideroblastic anaemia and ataxia : an X linked recessive disorder. J Med Genet 22 : 267-273, 1985.
 
10) Raskind WH, Wijsman E, Pagon RA, et al : X-linked sideroblastic anemia and ataxia : linkage to phosphoglycerate kinase at Xq13. Am J Hum Genet 48 : 335-341, 1991.
PubMed
11) Bergmann AK, Campagna DR, McLoughlin EM, et al : Systematic molecular genetic analysis of congenital sideroblastic anemia : evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer 54 : 273-278, 2010.
PubMed
12) Ohba R, Furuyama K, Yoshida K, et al : Clinical and genetic characteristics of congenital sideroblastic anemia : comparison with myelodysplastic syndrome with ring sideroblast (MDSRS). Ann Hematol 92 : 1-9, 2013.
PubMed
13) 遺伝性鉄芽球性貧血の診断基準と診療の参照ガイド改訂版作成のためのワーキンググループ : 遺伝性鉄芽球性貧血診療の参照ガイド 令和1年改訂版, 2020.
 
14) Medeiros BC, Kolhouse JF, Cagnoni PJ, et al : Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia. Bone Marrow Transplant 31 : 1053-1055, 2003.
PubMed
15) Van Dijck R, Goncalves Silva AM, Rijneveld AW : Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia. N Engl J Med 388 : 1435-1436, 2023.
PubMed
P.173 掲載の参考文献
1) Arber DA, Orazi A, Hasserjian R, et al : The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127 : 2391-2405, 2016.
 
2) Yoshida K, Sanada M, Shiraishi Y, et al : Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478 : 64-69, 2011.
PubMed
3) Ducamp S, Fleming MD : The molecular genetics of sideroblastic anemia. Blood 133 : 59-69, 2019.
PubMed
4) Dolatshad H, Pellagatti A, Liberante FG, et al : Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes. Leukemia 30 : 2322-2331, 2016.
PubMed
5) Fujiwara T, Harigae H : Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. Free Radic Biol Med 133 : 179-185, 2019.
PubMed
6) Kispal G, Csere P, Prohl C, et al : The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins. EMBO J 18 : 3981-3989, 1999.
 
7) Bhasker CR, Burgiel G, Neupert B, et al : The putative iron-responsive element in the human erythroid 5-aminolevulinate synthase mRNA mediates translational control. J Biol Chem 268 : 12699-12705, 1993.
PubMed
8) Ochi T, Fujiwara T, Ono K, et al : Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome. Sci Rep 12 : 14562, 2022.
PubMed
9) Greenberg PL, Tuechler H, Schanz J, et al : Revised international prognostic scoring system for myelodysplastic syndromes. Blood 120 : 2454-2465, 2012.
PubMed
10) Fenaux P, Platzbecker U, Mufti GJ, et al : Luspatercept in patients with lower-risk myelodysplastic syndromes. New Engl J Med 382 : 140-151, 2020.
PubMed
11) Yoshimi A, Abdel-Wahab O : Splicing factor mutations in MDS RARS and MDS/MPN-RS-T. Int J Hematol 105 : 720-731, 2017.
 
P.176 掲載の参考文献
1) Lichtman MA, Beutler E, Kipps TJ (ed) : Williams Hematology, 7th Edition, p823-828, McGraw-Hill Medical, New York, 2005.
 
2) Willekens C, Dumezy F, Boyer T, et al : Linezolid induces ring sideroblasts. Haematologica 98 : e138-e140, 2013.
PubMed
3) Bottomley SS : Sideroblastic anemia. In : Iron in Biochemistry and Medicine II (ed by Jacobs A, Worwood M). p363-392, Academic Press, London, 1981.
 
4) 新津洋司郎, 瀧本理修, ほか : 三輪血液病学 第3版 (浅野茂隆, 池田康夫, 内山卓監), p1018-1023, 文光堂, 2006.
 
5) Savage D, Lindenbaum J : Anemia in alcoholics. Medicine (Baltimore) 65 : 322-338, 1986.
PubMed
6) Pierce HI, McGuffin RG, Hillman RS : Clinical studies in alcoholic sideroblastosis. Arch Intern Med 136 : 283-289, 1976.
PubMed
7) Bottomley SS. Sideroblastic anemias. In : Wintrobe's Clinical Hematology, 12th ed (ed by Greer JP, Foerster J, Rodgers GM, et al), p835, Lippincott Williams and Wilkins, Philadelphia, 2008.
 
8) Lumeng L, Li TK : Vitamin B6 metabolism in chronic alcohol abuse. Pyridoxal phosphate levels in plasma and the effects of acetaldehyde on pyridoxal phosphate synthesis and degradation in human erythrocytes. J Clin Invest 53 : 693-704, 1974.
PubMed
9) Beck EA, Ziegler G, Schmid R, et al : Reversible sideroblastic anemia caused by chloramphenicol. Acta Haematol 38 : 1-10, 1967.
PubMed
10) Firkin FC : Mitochondrial lesions in reversible erythropoietic depression due to chloramphenicol. J Clin Invest 51 : 2085-2092, 1972.
PubMed
11) Hines JD, Love DS : Determination of serum and blood pyridoxal phosphate concentrations with purified rabbit skeletal muscle apophosphorylase b. J Lab Clin Med 73 : 343-349, 1969.
 
P.179 掲載の参考文献
1) Sassa S : Toxic effects of lead, with particular reference to porphyrin and heme metabolism. In : Heme and Hemoproteins (ed by DeMatties F, Aldridge WN). p333-371, Springer, New York, 1978.
 
2) Valentine WN, Paglia DE, Fink K, et al : Lead poisoning : association with hemolytic anemia, basophilic stippling, erythrocyte pyrimidine 5'-nucleotidase deficiency, and intraerythrocytic accumulation of pyrimidines. J Clin Invest 58 : 926-932, 1976.
PubMed
3) Dagg JH, Goldberg A, Lochhead A, et al : The relationship of lead poisoning to acute intermittent porphyria. Q J Med 34 : 163-175, 1965.
PubMed
4) 田中健, 坂本昭彦, 白石香, ほか : 慢性鉛中毒による貧血. 臨床血液 37 : 1325-1327, 1996.
 
5) Cullen MR, Robins JM, Eskenazi B : Adult inorganic lead intoxication : presentation of 31 new cases and a review of recent advances in the literature. Medicine (Baltimore) 62 : 221-247, 1983.
 
6) Labbe RF, Rettmer RL : Zinc protoporphyrin : a product of iron-deficient erythropoiesis. Semin Hematol 26 : 40-46, 1989.
PubMed
P.182 掲載の参考文献
1) Fujiwara T, Harigae H : Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. Free Radic Biol Med 133 : 179-185, 2019.
PubMed
2) Ducamp S, Fleming MD : The molecular genetics of sideroblastic anemia. Blood 133 : 59-69, 2019.
PubMed
3) Harris JW, Whittington RM, Weisman R Jr, et al : Pyridoxine responsive anemia in the human adult. Proc Soc Exp Biol Med 91 : 427-432, 1956.
PubMed
4) Raab SO, Haut A, Cartwright GE, et al : Pyridoxine-responsive anemia. Blood 18 : 285-302, 1961.
PubMed
5) Horrigan DL, Harris JW : Pyridoxine-responsive anemias in man. Vitam Horm 26 : 549-571, 1968.
PubMed
6) 通山薫, ほか : 不応性貧血症例の新規登録の報告. 厚生労働科学研究費補助金難治性疾患克服研究事業特発性造血障害に関する調査研究班 平成15年度総括・分担研究報告書, p102-103, 2004.
 
7) Haferlach T, Nagata Y, Grossmann V, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 : 241-247, 2014.
PubMed
8) Fuller SJ, Wiley JS : Chapter 39. In : Hematology : Basic Principles and Practice, Eighth Edition, p507-523, Elsevier, Philadelphia, 2023.
 
9) Van Gameren II, Wijnja L, Louwes H, et al : Pyridoxin-responsive anaemia in a patient with a history of polycythaemia vera. J Intern Med 242 : 79-81, 1997.
 
10) Furuyama K, Harigae H, Kinoshita C, et al : Late-onset X-linked sideroblastic anemia following hemodialysis. Blood 101 : 4623-4624, 2003.
PubMed
11) Baumann Kreuziger LM, Wolanskyj AP, Hanson CA, et al : Lack of efficacy of pyridoxine (vitamin B6) treatment in acquired idiopathic sideroblastic anaemia, including refractory anaemia with ring sideroblasts. Eur J Haematol 86 : 512-516, 2011.
PubMed
12) French SW : Alcohol-induced vitamin-B6-responsive anemia. N Engl J Med 283 : 1173, 1970.
PubMed
13) 藤原亨, 張替秀郎 : 二次性鉄芽球性貧血. 別冊日本臨牀血液症候群 (第2版), p212-214, 日本臨牀社, 2013.
 
14) Sharp RA, Lowe JG, Johnston RN : Anti-tuberculous drugs and sideroblastic anaemia. Br J Clin Pract 44 : 706-707, 1990.
PubMed
P.186 掲載の参考文献
1) 西美和, 波多野修一, 相原克昭, ほか : 銅Copper. 日本臨床 47 : 771-774, 1989.
 
2) Turnlund JR : Copper. In : Modern Nutrition in Health and Disease, ed (ed by 10th, Shils ME, Shike M, Ross AC, et al), p286, Lippincott Williams and Wilkins, Philadelphia, 2006.
 
3) Hayashi H, Suzuki R, Wakusawa S : Wilson's disease and its pharmacological treatment. Yakugaku Zasshi 124 : 711-724, 2004.
PubMed
4) Kodama H, Murata Y, Kobayashi M : Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 41 : 423-429, 1999.
PubMed
5) Danks DM : Copper deficiency in humans. Annu Rev Nutr 8 : 235-257, 1988.
PubMed
6) Williams DM : Copper deficiency in humans. Semin Hematol 20 : 118-128, 1983.
PubMed
7) 三木浩和, 桑山泰治, 原朋子, ほか : 汎血球減少症, 徐脈, 神経症状を呈した銅欠乏症. 臨床血液 48 : 212-216, 2007.
 
8) Jaiser SR, Winston GP : Copper deficiency myelopathy. J Neurol 257 : 869-881, 2010.
PubMed
9) 武田英二, ほか : その他の代謝異常 内科学 第九版, (杉本恒明, 矢崎義雄編), p1540, 朝倉書店, 2007.
 
10) Fiske DN, McCoy HE 3rd, Kitchens CS : Zinc-induced sideroblastic anemia : report of a case, review of the literature, and description of the hematologic syndrome. Am J Hematol 46 : 147-150, 1994.
PubMed
P.190 掲載の参考文献
1) 菅野仁 : 先天性溶血性貧血. 血液専門医テキスト 改訂第3版 (日本血液学会編), 南江堂, p174-178, 2019.
 
2) 自己免疫性溶血性貧血診療の参照ガイド 令和4年度改訂版 (厚生労働科学研究費補助金難治性疾患政策研究事業特発性造血障害に関する調査研究班自己免疫性溶血性貧血の診断基準と診療の参照ガイド改訂版作成のためのワーキンググループ編), 2023. [http://zoketsushogaihan.umin.jp/]
 
3) Bolton-Maggs PH, Langer JC, Iolascon A, et al : Guidelines for the diagnosis and management of hereditary spherocytosis-2011 update. Br J Haematol 156 : 37-49, 2012.
PubMed
4) 中西秀和 : 遺伝性溶血性貧血. 今日の治療指針 2023 (福井次矢, 高木誠, 小室一成編), 医学書院, p659, 2023.
 
5) 遺伝性球状赤血球症. [https://www.shouman.jp/disease/details/09_08_011/]
 
P.194 掲載の参考文献
1) Wallensky LD, Narla M, Lux SEIV : Disorders of the red blood cell membrane. In : Blood : Principles and Practice of Hematology (ed by Handin RI, Lux SE, Stossel TP), 2nd ed, p1789-1809, Lippincott Williams & Wilkins, Philadelphia, 2003.
 
2) Kalfa TA : Diagnosis and clinical management of red cell membrane disorders. Hematology Am Soc Hematol Educ Program 2021 : 331-340, 2021.
PubMed
3) Risinger M, Kalfa TA : Red cell membrane disorders : structure meets function. Blood 136 : 1250-1261, 2020.
PubMed
4) Yawata Y : Hereditary elliptocytosis (HE). In : Cell Membrane : The Red Blood Cell as a Model, p213-237, Wiley Blackwell, Weinheim, 2003.
 
5) Yawata Y, Kanzaki A, Yawata A, et al : Hereditary Red Cell Membrane Disorders in Japan : Their Genotypic and Phenotypic Features in 1014 Cases Studied. Hematology 6 : 399-422, 2001.
PubMed
6) Kanzaki A, Ikeda A, Yawata Y : Membrane studies on rod-shaped red cells in hereditary elliptocytosis : least haemolysis and normal sodium influx with decreased membrane lipids. Br J Haematol 70 : 105-112, 1988.
PubMed
7) Reid ME, Mohandas N : Red blood cell blood group antigens : structure and function. Semin Hematol 41 : 93-117, 2004.
PubMed
8) Suemori S, Wada H, Nakanishi H, et al : Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. Biomed Res Int 2015 : ID 451861, 2015.
 
9) King MJ, Behrens J, Rogers C, et al : Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. Br J Haematol 111 : 924-933, 2000.
PubMed
10) King MJ, Jepson MA, Guest A, et al : Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA) -binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. Int J Lab Hem atol 33 : 205-211, 2011.
 
11) King MJ, et al : Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. Cytometry B Clin Cytom 74 : 244-250, 2008.
PubMed
12) Bruce LJ : Hereditary stomatocytosis and cation-leaky red cells--recent developments. Blood Cells Mol Dis 42 : 216-222, 2009.
PubMed
13) King MJ, Bruce L, Whiteway A : The mutant erythrocyte band 3 protein in Southeast Asian ovalocytosis does not bind eosin-5-maleimide. Int J Lab Hem atol 31 : 116-117, 2009.
PubMed
14) Jonsson JJ, Renieri A, Gallagher PG, et al : Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis : a new X linked contiguous gene deletion syndrome? J Med Genet 35 : 273-278, 1998.
PubMed
P.199 掲載の参考文献
1) Wallensky LD, Narla M, Lux SEIV : Disorders of the red blood cell membrane. In : Blood. Principles and Practice of Hematology, 2nd ed (ed by Handin RI, Lux SE, Stossel TP), p1817-1823, Lippincott Williams & Wilkins, Philadelphia, 2003.
 
2) Gallagher PG, Glader B : Chapter27 : Hereditary spherocytosis, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane In : Wintrobe's Clinical Hematology, 13th ed (ed by Greer JP, Arber DA), p722-724, Lippincott Williams & Wilkins, 2014.
 
3) Gallagher PG : Disorders of erythrocyte hydration. Blood 130 : 2699-2708, 2017.
PubMed
4) King MJ, Garcon L, Hoyer JD, et al : ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol 37 : 304-325, 2015.
PubMed
5) Imashuku S, Muramatsu H, Sugihara T, et al : PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. Int J Hematol 104 : 125-129, 2016.
 
6) Andolfo I, Russo R, Gambale A, et al : Hereditary stomatocytosis : An underdiagnosed condition. Am J Hematol 93 : 107-121, 2018.
PubMed
7) Andolfo I, Russo R, Rosato BE, et al : Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients. Am J Hematol 93 : 1509-1517, 2018.
 
8) Picard V, Guitton C, Thuret I, et al : Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy : a retrospective series of 126 patients. Haematologica 104 : 1554-1564, 2019.
PubMed
9) Li J, Hou B, Tumova S, et al : Piezo1 integration of vascular architecture with physiological force. Nature 515 : 279-282, 2014.
 
10) Wang S, Chennupati R, Kaur H, et al : Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release. J Clin Invest 126 : 4527-4536, 2016.
PubMed
11) Gallagher PG, Chang SH, Rettig MP, et al : Altered erythrocyte endothelial adherence and membrane phospholipid asymmetry in hereditary hydrocytosis. Blood 101 : 4625-4627, 2003.
PubMed
12) Bolton-Maggs PHB, Langer JC, Iolascon A, et al : Guidelines for the diagnosis and management of hereditary spherocytosis-2011 update. Br J Hematol 156 : 37-49, 2012.
 
13) Guizouarn H, Borgese F, Gabillat N, et al : South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects. Br J Hematol 152 : 655-664, 2011.
 
14) Nakahara E, Yamamoto KS, Ogura H, et al : Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Hum Genome Var 10 : 8, 2023.
PubMed
15) 小倉浩美, 菅野仁 : 先天性溶血性貧血の新知見. 血液内科 78 : 212-219, 2019.
 
P.204 掲載の参考文献
1) Zarkowsky HS, Mohandas N, Speaker CB, et al : A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. Br J Haematol 29 : 537-543, 1975.
PubMed
2) Gallagher PG, Glader B : Hereditary spherocytosis, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane. In : Wintrobe's Clinical Hematology, 12th edition, Lippincott Williams & Wilkins, Philadelphia, 2009.
 
3) Coetzer T, Palek J, Lawler J, et al : Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site : relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood 75 : 2235-2244, 1990.
PubMed
4) 中西秀和, 和田秀穂, 末盛晋一郎, ほか : 日本における赤血球膜異常症-諸外国との比較-. 臨床血液 56 : 760-770, 2015.
 
5) Hanspal M, Hanspal JS, Sahr KE, et al : Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. Blood 82 : 1652-1660, 1993.
PubMed
6) Costa DB, Lozovatsky L, Gallagher PG, et al : A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood 106 : 4367-4369, 2005.
PubMed
7) Tolpinrud W, Maksimova YD, Forget BG, et al : Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. Haematologica 93 : 1752-1754, 2008.
PubMed
8) Gallagher PG, Forget BG : Spectrin St Louis and the alpha LELY allele. Blood 84 : 1686-1687, 1994.
 
9) Niss O, Chonat S, Dagaonkar N, et al : Genotype-phenotype correlation in hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mo Dis 61 : 4-9, 2016.
 
10) Maillet P, Alloisio N, Morle L, et al : Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. Hum Mutat 8 : 97-107, 1996.
PubMed
11) DePalma L, Luban NL : Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. Am J Dis Child 147 : 93-95, 1993.
PubMed
12) King MJ, Jepson MA, Guest A, et al : Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA) -binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. Int J Lab Hematol 33 : 205-211, 2011.
PubMed
P.209 掲載の参考文献
1) Andolfo I, Russo R, Gambale A, et al : Hereditary stomatocytosis : An underdiagnosed condition. Am J Hematol 93 : 107-121, 2018.
PubMed
2) Kaufman HW, Niles JK, Gallagher DR, et al : Revised prevalence estimate of possible Hereditary Xerocytosis as derived from a large U.S. Laboratory database. Am J Hematol 93 : E9-E12, 2018.
PubMed
3) Andolfo I, Russo R, Gambale A, et al : New insights on hereditary erythrocyte membrane defects. Haematologica 101 : 1284-1294, 2016.
PubMed
4) Ma S, Dubin AE, Zhang Y, et al : A role of PIEZO1 in iron metabolism in mice and humans. Cell 184 : 969-982.e13, 2021.
 
5) Zarychanski R, Schulz VP, Houston BL, et al : Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood 120 : 1908-1915, 2012.
PubMed
6) Rapetti-Mauss R, Lacoste C, Picard V, et al : A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood 126 : 1273-1280, 2015.
PubMed
7) Fermo E, Bogdanova A, Petkova-Kirova P, et al : "Gardos Channelopathy" : A variant of hereditary Stomatocytosis with complex molecular regulation. Sci Rep 7 : 1744, 2017.
 
8) Picard V, Guitton C, Thuret I, et al : Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy : a retrospective series of 126 patients. Haematologica 104 : 1554-1564, 2019.
PubMed
9) Andolfo I, Rosato BE, Manna F, et al : Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway. Am J Hematol 95 : 188-197, 2020.
PubMed
10) Andolfo I, Russo R, Rosato BE, et al : Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients. Am J Hematol 93 : 1509-1517, 2018.
 
11) 菅野仁, 小倉浩美 : 網羅的遺伝子解析による先天性溶血性貧血診断の意義と課題. 臨床血液 62 : 472-479, 2021.
 
12) 槍澤大樹, 菅野仁, 大賀正一 : IX 先天性溶血性貧血. 遺伝性骨髄不全症診療ガイドライン 2023 (日本小児血液・がん学会編), p76-86, 診断と治療社, 2023.
 
13) Shander A, Sazama K : Clinical consequences of iron overload from chronic red blood cell transfusions, its diagnosis, and its management by chelation therapy. Transfusion 50 : 1144-1155, 2010.
PubMed
14) 輸血後鉄過剰症の診療参照ガイド, 令和4年度改定版. 厚生労働科学研究費補助金難治性疾患政策研究事業特発性造血障害に関する調査研究班, 2023.
 
15) Ballas SK, Zeidan AM, Duong VH, et al : The effect of iron chelation therapy on overall survival in sickle cell disease and β-thalassemia : A systematic review. Am J Hematol 93 : 943-952, 2018.
 
P.213 掲載の参考文献
1) Carton JP : RH blood group system and molecular basis of Rh-deficiency. Baillieres Best Pract Res Clin Haematol 12 : 655-689, 1999.
 
2) Ushiki T, Tsuneyama H, Masuko M, et al : Rh null phenotype caused by a RHAG mutation, c.945+1G>A, in the Japanese population. Transfusion 59 : 2519-2522, 2019.
PubMed
3) Tian L, Song N, Yao ZQ, et al : A family study of the Chinese Rhnull individual of the regulator type : a novel single missense mutation identified in RHAG gene. Transfusion 51 : 2686-2689, 2011.
PubMed
4) Junca TG, Pinilla JJ, Sanjuanelo M, et al : A novel mutation in RHAG causing Rh null phenotype in Colombia. Transfusion 61 : E62-E64, 2021.
PubMed
5) Cherif-Zahar B, Raynal V, Gane P, et al : Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. Nat Genet 12 : 168-173, 1996.
PubMed
6) Kamesaki T, Iwamoto S, Kajii E, et al : A new mutation detected in RhAG of a Japanese family with Rh (mod) syndrome may form a longer RhAG protein. Transfusion 42 : 383-384, 2002.
 
7) Gomez-Torreiro E, Eiras-Martinez A, Rodriguez-Calvo MI, et al : Rh-null phenotype caused by a complete RHAG deletion. Transfusion 55 : 197-198, 2015.
PubMed
8) Kato-Yamazaki M, Okuda H, Kawano M, et al : Molecular genetic analysis of the Japanese amorph rh (null) phenotype. Transfusion 40 : 617-618, 2000.
PubMed
9) Cherif-Zahar B, Matassi G, Raynal V, et al : Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. Blood 92 : 639-646, 1998.
PubMed
10) Huang CH, Chen Y, Reid ME, et al : Rhnull disease : the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood 92 : 664-671, 1998.
 
11) Rosa KA, Reid ME, Lomas-Francis C, et al : Rh null syndrome : identification of a novel mutation in RHce. Trasfusion 45 : 1796-1798, 2005.
 
12) Nance S, Scharberg EA, Thornton N, et al : International rare donor panels : a review. Vox Sang 110 : 209-218, 2016.
PubMed
13) Kuypers F, van Linde-Sibenius-Trip M, Roelofsen B, et al : Rhnull human erythrocytes have an abnormal membrane phospholipid organization. Biochem J 221 : 931-934, 1984.
PubMed
14) Ballas SK, Clark MR, Mohandas N, et al : Red cell membrane and cation deficiency in Rh null syndrome. Blood 63 : 1046-1055, 1984.
PubMed
P.220 掲載の参考文献
1) Yawata Y : Hereditary spherocytosis (HS). In : Cell Membrane : The Red Blood Cell as a Model (ed by Yawata Y), p173-212, Wiley-VCH, Darmstadt, 2003.
 
2) Perrotta S, Gallagher PG, Mohandas N : Hereditary spherocytosis. Lancet 372 : 1411-1426, 2008.
PubMed
3) Walensky LD, Nara M, Lux SE : Disorders of the red cell membrane. In : Blood : Principles and Practice of Hematology, 2nd ed (ed by Handin RI, Lux SE, Stossel TP), p1709-1858, Lippincott Williams and Wilkins, Philadelphia, 2003.
 
4) Eber SW, Gonzalez JM, Lux ML, et al : Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 13 : 214-218, 1996.
 
5) Nakanishi H, Kanzaki A, Yawata A, et al : Ankyrin gene mutations in japanese patients with hereditary spherocytosis. Int J Hematol 73 : 54-63, 2001.
PubMed
6) 中西秀和 : 日本人の遺伝性球状赤血球症におけるankyrin遺伝子変異の解析. 川崎医学会誌 28 : 73-82, 2002.
Medical*Online
7) Choi HS, Choi Q, Kim JA, et al : Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea : matching with osmotic fragility test and presence of spherocyte. Orphanet J Rare Dis 14 : 114, 2019.
PubMed
8) Aggarwal A, Jamwal M, Sharma P, et al : Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing : First South Asian study. Br J Haematol 188 : 784-795, 2020.
PubMed
9) Peng GX, Yang WR, Zhao X, et al : The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients. Zhonghua Xue Ye Xue Za Zhi 39 : 898-903, 2018.
PubMed
10) Yawata Y : Anchoring proteins. In : Cell Membrane : The Red Blood Cell as a Model (ed by Yawata Y), p115-132, Wiley-VCH, Darmstadt, 2003.
 
11) Sharma N, Bham K, Senapati S : Human ankyrins and their contribution to disease biology : An update. J Biosci 45 : 146, 2020.
PubMed
12) Lux SE 4th : Anatomy of the red cell membrane skeleton : unanswered questions. Blood 127 : 187-199, 2016.
PubMed
13) Hayette S, Carre G, Bozon M, et al : Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. Am J Hematol 58 : 36-41, 1998.
PubMed
14) Ozcan R, Jarolim P, Lux SE, et al : Simultaneous (AC) n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. Br J Haematol 122 : 669-677, 2003.
 
15) Leite RC, Basseres DS, Ferreira JS, et al : Low frequency of ankyrin mutations in hereditary spherocytosis : identification of three novel mutations. Hum Mutat 16 : 529, 2000.
PubMed
16) Gallagher PG, Nilson DG, Wong C, et al : A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis. Hum Mol Genet 14 : 2501-2509, 2005.
 
17) More TA, Devendra R, Dongerdiye R, et al : Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients : expanding the molecular and clinical spectrum. Mol Genet Genomics 298 : 427-439, 2023.
PubMed
18) van Vuren A, van der Zwaag B, Huisjes R, et al : The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis : A Cohort of 95 Patients : Genotype-Phenotype Correlation in Hereditary Spherocytosis. Hemasphere 3 : e276, 2019.
PubMed
19) Tole S, Dhir P, Pugi J, et al : Genotype-phenotype correlation in children with hereditary spherocytosis. Br J Haematol 191 : 486-496, 2020.
PubMed
P.226 掲載の参考文献
1) Walensky LD, Nara M, Lux SE : Disorders of the red cell membrane. In : Blood : Principles and Practice of Hematology, 2nd ed (ed by Handin RI, Lux SE, Stossel TP), p1709-1858, Lippincott Williams and Wilkins, Philadelphia, 2003.
 
2) Machnicka B, Czogalla A, Hryniewicz-Jankowska A, et al : Spectrins : a structural platform for stabilization and activation of membrane channels, receptors and transporters. Biochim Biophys Acta 1838 : 620-634, 2014.
PubMed
3) An X, Mohandas N : Disorders of red cell membrane. Br J Haematol 141 : 367-375, 2008.
PubMed
4) Da Costa L, Galimand J, Fenneteau O, et al : Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev 27 : 167-178, 2013.
PubMed
5) Yawata Y : Abnormalities of skeletal proteins. In : Cell Membrane : The Red Blood Cell as a Model (ed by Yawata Y), p261-296, Wiley-VCH, Darmstadt, 2006.
 
6) Yawata Y, Kanzaki A, Yawata A, et al : Hereditary Red Cell Membrane Disorders in Japan : Their Genotypic and Phenotypic Features in 1014 Cases Studied. Hematology 6 : 399-422, 2001.
PubMed
7) Gallagher PG, Zhang Z, Morrow JS, et al : Mutation of a highly conserved isoleucine disrupts hydrophobic interactions in the alpha beta spectrin self-association binding site. Lab Invest 84 : 229-234, 2004.
PubMed
8) Parquet N, Devaux I, Boulanger L, et al : Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis : further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. Blood 84 : 303-308, 1994.
PubMed
9) Coetzer TL, Sahr K, Prchal J, et al : Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. J Clin Invest 88 : 743-749, 1991.
PubMed
10) Floyd PB, Gallagher PG, Valentino LA, et al : Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. Blood 78 : 1364-1372, 1991.
PubMed
11) Garbarz M, Lecomte MC, Feo C, et al : Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. Blood 75 : 1691-1698, 1990.
 
12) Maillet P, Alloisio N, Morle L, et al : Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. Hum Mutat 8 : 97-107, 1996.
PubMed
13) Perrotta S, Miraglia del Giudice E, Alloisio N, et al : Mild elliptocytosis associated with the alpha 34 Arg→Trp mutation in spectrin Genova (alpha I/74). Blood 83 : 3346-3349, 1994.
 
14) Swierczek S, Agarwal AM, Naidoo K, et al : Novel exon 2 α spectrin mutation and intragenic crossover : three morphological phenotypes associated with four distinct α spectrin defects. Haematologica 98 : 1972-1979, 2013.
 
15) Morle L, Morle F, Roux AF, et al : Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG→TGG codon change (Arg→Trp) at position 35 of the alpha I domain. Blood 74 : 828-832, 1989.
 
16) Perrotta S, Iolascon A, De Angelis F, et al : Spectrin Anastasia (alpha I/78) : a new spectrin variant (alpha 45 Arg→Thr) with moderate elliptocytogenic potential. Br J Haematol 89 : 933-936, 1995.
 
17) Lecomte MC, Garbarz M, Grandchamp B, et al : Sp alpha I/78 : a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes. Blood 74 : 1126-1133, 1989.
 
18) Morle L, Roux AF, Alloisio N, et al : Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT→GTT ; alpha I 40 Gly→Val) and spectrin Lyon (CTT→TTT ; alpha I 43 Leu→Phe). J Clin Invest 86 : 548-554, 1990.
 
19) He Y, Jia S, Dewan RK, et al : Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing. Gene 627 : 556-562, 2017.
PubMed
20) Boulanger L, Dhermy D, Garbarz M, et al : A second allele of spectrin alpha-gene associated with the alpha I/65 phenotype (allele alpha Ponte de Sor). Blood 84 : 2056, 1994.
PubMed
21) Gallagher PG, Tse WT, Coetzer T, et al : A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. J Clin Invest 89 : 892-898, 1992.
PubMed
22) Sahr KE, Tobe T, Scarpa A, et al : Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. J Clin Invest 84 : 1243-1252, 1989.
 
23) Anil More T, Kedar P : Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing. Gene 843 : 146796, 2022.
PubMed
24) Alloisio N, Wilmotte R, Morle L, et al : Spectrin Jendouba : an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site. Blood 80 : 809-815, 1992.
PubMed
25) Lin PC, Chiou SS, Lin CY, et al : Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan. Clin Chim Acta 487 : 311-317, 2018.
PubMed
26) Ma S, Song K, Niu J : Analysis of SPTA1 gene mutations in a patient with hereditary elliptocytosis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 : 703-706, 2018.
 
27) Hassoun H, Coetzer TL, Vassiliadis JN, et al : A novel mobile element inserted in the alpha spectrin gene : spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. J Clin Invest 94 : 643-648, 1994.
 
28) Baklouti F, Marechal J, Wilmotte R, et al : Elliptocytogenic alpha I/36 spectrin Sfax lacks nine amino acids in helix 3 of repeat 4. Evidence for the activation of a cryptic 5'-splice site in exon 8 of spectrin alpha-gene. Blood 79 : 2464-2470, 1992.
PubMed
29) Roux AF, Morle F, Guetarni D, et al : Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa : insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families. Blood 73 : 2196-2201, 1989.
PubMed
30) Iolascon A, King MJ, Robertson S, et al : A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis. Blood Cells Mol Dis 46 : 195-200, 2011.
 
31) Gallagher PG, Roberts WE, Benoit L, et al : Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria : an alpha I/50b Kd variant that is caused by a single amino acid deletion. Blood 82 : 2210-2215, 1993.
PubMed
32) Wilmotte R, Marechal J, Delaunay J : Mutation at position -12 of intron 45 (c→t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alphaLELY in erythroid cells. Br J Haematol 104 : 855-859, 1999.
 
33) Wichterle H, Hanspal M, Palek J, et al : Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. J Clin Invest 98 : 2300-2307, 1996.
PubMed
34) Gallagher PG, Maksimova Y, Lezon-Geyda K, et al : Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. J Clin Invest 129 : 2878-2887, 2019.
 
35) Tole S, Dhir P, Pugi J, et al : Genotype-phenotype correlation in chilren with hereditary spherocytosis. Br J of Haematol 191 : 486-496, 2020.
 
36) van Vuren A, van der Zwaag B, Huisjes R, et al : The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis : A Cohort of 95 Patients : Genotype-Phenotype Correlation in Hereditary Spherocytosis. Hemasphere 3 : e276, 2019.
PubMed
37) Choi HS, Choi Q, Kim JA, et al : Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea : matching with osmotic fragility test and presence of spherocyte. Orphanet J Rare Dis 14 : 114, 2019.
PubMed
38) Peng GX, Yang WR, Zhao X, et al : The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients. Zhonghua Xue Ye Xue Za Zhi 39 : 898-903, 2018.
PubMed
39) Aggarwal A, Jamwal M, Sharma P, et al : Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing : First South Asian study. Br J Haematol 188 : 784-795, 2020.
PubMed
40) Svidnicki MCCM, Zanetta GK, Congrains-Castillo A, et al : Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil. Ann Hematol 99 : 955-962, 2020.
PubMed
41) Yamamoto KS, Utshigisawa T, Ogura H, et al : Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis. Hum Genome Var 9 : 1, 2022.
PubMed
42) Chonat S, Risinger M, Sakthivel H, et al : Corrigendum : The Spectrum of SPTA1-Associated Hereditary Spherocytosis. Front Physiol 10 : 00815, 2019.
PubMed
P.234 掲載の参考文献
1) Walensky LD, Nara M, Lux SE : Disorders of the red cell membrane. In : Blood : Principles and Practice of Hematology, 2nd ed (ed by Handin RI, Lux SE, Stossel TP), p1709-1858, Lippincott Williams and Wilkins, Philadelphia, 2003.
 
2) Machnicka B, Czogalla A, Hryniewicz-Jankowska A, et al : Spectrins : a structural platform for stabilization and activation of membrane channels, receptors and transporters. Biochim Biophys Acta 1838 : 620-634, 2014.
PubMed
3) An X, Mohandas N : Disorders of red cell membrane. Br J Haematol 141 : 367-375, 2008.
PubMed
4) Yawata Y : Abnormalities of skeletal proteins. In : Cell Membrane : The Red Blood Cell as a Model (ed by Yawata Y), p173-212, Wiley-VCH, Darmstadt, 2006.
 
5) Yawata Y : Skeletal proteins. In : Cell Membrane : The Red Blood Cell as a Model (ed by Yawata Y), p61-80, Wiley-VCH, Darmstadt, 2003.
 
6) Sahr KE, Coetzer TL, Moy LS, et al : Spectrin cagliari. an Ala→Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. J Biol Chem 268 : 22656-22662, 1993.
 
7) Dhermy D, Galand C, Bournier O, et al : Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. Blood 92 : 4481-4482, 1998.
 
8) Gallagher PG, Weed SA, Tse WT, et al : Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. J Clin Invest 95 : 1174-1182, 1995.
 
9) Parquet N, Devaux I, Boulanger L, et al : Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis : further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. Blood 84 : 303-308, 1994.
PubMed
10) Tse WT, Lecomte MC, Costa FF, et al : Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. J Clin Invest 86 : 909-916, 1990.
PubMed
11) Qualtieri A, Pasqua A, Bisconte MG, et al : Spectrin Cosenza : a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. Br J Haematol 97 : 273-278, 1997.
 
12) Maillet P, Inoue T, Kanzaki A, et al : Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. Hum Mutat 8 : 366-368, 1996.
PubMed
13) Jarolim P, Wichterle H, Hanspal M, et al : Beta spectrin PRAGUE : a truncated beta spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis. Br J Haematol 91 : 502-510, 1995.
 
14) Basseres DS, Pranke PH, Sales TS, et al : Beta-spectrin Campinas : a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. Br J Haematol 97 : 579-585, 1997.
 
15) Yoon SH, Yu H, Eber S, et al : Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen. J Biol Chem 266 : 8490-8494, 1991.
PubMed
16) Gallagher PG, Tse WT, Costa F, et al : A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. J Biol Chem 266 : 15154-15159, 1991.
 
17) Marechal J, Wada H, Koffa T, et al : Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family : ultrastructural aspect of the red cell skeleton. Eur J Haematol 52 : 92-98, 1994.
 
18) Garbarz M, Tse WT, Gallagher PG, et al : Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. J Clin Invest 88 : 76-81, 1991.
 
19) Garbarz M, Boulanger L, Pedroni S, et al : Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene. Blood 80 : 1066-1073, 1992.
PubMed
20) Tse WT, Gallagher PG, Pothier B, et al : An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). Blood 78 : 517-523, 1991.
PubMed
21) Wilmotte R, Miraglia del Giudice E, Marechal J, et al : A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli. Br J Haematol 88 : 437-439, 1994.
PubMed
22) Kanzaki A, Rabodonirina M, Yawata Y, et al : A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). Blood 80 : 2115-2121, 1992.
PubMed
23) Ipsaro JJ, Harper SL, Messick TE, et al : Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex. Blood 115 : 4843-4852, 2010.
PubMed
24) Hassoun H, Vassiliadis JN, Murray J, et al : Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood 90 : 398-406, 1997.
PubMed
25) Tole S, Dhir P, Pugi J, et al : Genotype-phenotype correlation in children with hereditary spherocytosis. Br J of Haematol 191 : 486-496, 2020.
PubMed
26) van Vuren A, van der Zwaag B, Huisjes R, et al : The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis : A Cohort of 95 Patients : Genotype-Phenotype Correlation in Hereditary Spherocytosis. Hemasphere 3 : e276, 2019.
PubMed
27) Choi HS, Choi Q, Kim JA, et al : Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea : matching with osmotic fragility test and presence of spherocyte. Orphanet J Rare Dis 14 : 114, 2019.
PubMed
28) Peng GX, Yang WR, Zhao X, et al : The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients. Zhonghua Xue Ye Xue Za Zhi 39 : 898-903, 2018.
PubMed
29) Aggarwal A, Jamwal M, Sharma P, et al : Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing : First South Asian study. Br J Haematol 188 : 784-795, 2020.
PubMed
30) Svidnicki MCCM, Zanetta GK, Congrains-Castillo A, et al : Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil. Ann Hematol 99 : 955-962, 2020.
PubMed
31) Yamamoto KS, Utshigisawa T, Ogura H, et al : Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis. Hum Genome Var 9 : 1, 2022.
PubMed
32) Maciag M, Plochocka D, Adamowicz-Salach A, et al : Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Br J Haematol 146 : 326-332, 2009.
PubMed
33) Hassoun H, Vassiliadis JN, Murray J, et al : Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. J Clin Invest 96 : 2623-2629, 1995.
 
34) Becker PS, Tse WT, Lux SE, et al : Beta spectrin kissimmee : a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. J Clin Invest 92 : 612-616, 1993.
PubMed
P.239 掲載の参考文献
1) Luzzatto L : Disorders of the red cell membrane. In : Nathan and Oski's Hematology and Oncology of Infancy and Childhood, Eighth edition (ed by Orkin SH, Nathan DG, Ginsburg D, etal). p455-511. Saunders, Philadelphia, 2014.
 
2) Jarolim P, Wichterle H, Hanspal M, et al : Beta spectrin PRAGUE : a truncated beta spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis. Br J Haematol 91 : 502-510, 1995.
 
3) Basseres DS, Pranke PH, Sales TS, et al : Beta-spectrin Campinas : a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. Br J Haematol 97 : 579-585, 1997.
 
4) Daniels GL, Reid ME, Anstee DJ, et al : Transient reduction in erythrocyte membrane sialoglycoprotein beta associated with the presence of elliptocytes. Br J Haematol 70 : 477-481, 1988.
PubMed
5) Aksoy M, Erdem S, Dincol G, et al : Combination of hereditary elliptocytosis and hereditary spherocytosis. Clin Genet 6 : 46-50, 1974.
PubMed
6) Moyer JD, Nowak RB, Kim NE, et al : Tropomodulin 1-null mice have a mild spherocytic elliptocytosis with appearance of tropomodulin 3 in red blood cells and disruption of the membrane skeleton. Blood 116 : 2590-2599, 2010.
PubMed
7) Rice HE, Crary SE, Langer JC, et al : Comparative effectiveness of different types of splenectomy for children with congenital hemolytic anemias. J Pediatr 160 : 684-689.e13, 2012.
 
P.243 掲載の参考文献
1) 岩瀬孝志 : Stomatocytic elliptocytosis. 別冊日本臨牀血液症候群 (第2版) I, p235-237, 日本臨牀社, 2013.
 
2) Castelino D, Saul A, Myler P, et al : Ovalocytosis in Papua New Guinea : dominantly inherited resistance to malaria. Southeast Asian J Trop Med Public Health 12 : 549-555, 1981.
PubMed
3) 八幡義人 : 赤血球膜研究史-基礎科学と臨床医学が織りなす一世紀, p148-169, 医薬ジャーナル社, 2007.
 
4) 八幡義人 : 遺伝性楕円赤血球症 (HE). 三輸血液学 第3版 (浅野茂隆, 池田康夫, 内山卓監), p1067-1079, 文光堂, 2006.
 
5) Samuel E, et al : Disorder of the red cell membrane. In : Nathan and Oski's Hematology and Oncology of Infancy and Childhood (ed by Orkin SH, Nathan DG, Ginsburg D, et al), p515-579, Saunders, Philadelphia, 2014.
 
6) Liu SC, Zhai S, Palek J, et al : Molecular defect of the band 3 protein in southeast Asian ovalocytosis. N Engl J Med 323 : 1530-1538, 1990.
PubMed
7) Jarolim P, Palek J, Amato D, et al : Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc Natl Acad Sci U S A 88 : 11022-11026, 1991.
PubMed
8) Jarolim P, Palek J, Rubin HL, et al : Band 3 Tuscaloosa : Pro327→Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. Blood 80 : 523-529, 1992.
 
9) Hansen JC, Skalak R, Chien S, et al : Influence of network topology on the elasticity of the red blood cell membrane skeleton. Biophys J 72 : 2369-2381, 1997.
PubMed
10) Okoye VC, Bennett V : Plasmodium falciparum malaria : band 3 as a possible receptor during invasion of human erythrocytes. Science 227 : 169-171, 1985.
PubMed
11) Schofield AE, Reardon DM, Tanner MJ : Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells. Nature 355 : 836-838, 1992.
PubMed
12) Booth PB, Serjeantson S, Woodfield DG, et al : Selective depression of blood group antigens associated with hereditary ovalocytosis among melanesians. Vox Sang 32 : 99-110, 1977.
PubMed
13) Nixon CP, Satyagraha AW, Baird GL, et al : Accurate light microscopic diagnosis of South-East Asian ovalocytosis. Int J Lab Hematol 40 : 655-662, 2018.
PubMed
14) Tanner MJ, Bruce L, Martin PG, et al : Melanesian hereditary ovalocytes have a deletion in red cell band 3. Blood 78 : 2785-2786, 1991.
 
15) Laosombat V, Viprakasit V, Dissaneevate S, et al : Natural history of Southeast Asian Ovalocytosis during the first 3 years of life. Blood Cells Mol Dis 45 : 29-32, 2010.
PubMed
16) Liu SC, Jarolim P, Rubin HL, et al : The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal. Blood 84 : 3590-3591, 1994.
PubMed
17) Wrong O, Bruce LJ, Unwin RJ, et al : Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int 62 : 10-19, 2002.
PubMed
P.246 掲載の参考文献
1) Yawata Y : Red cell membrane protein band 4.2 : Phenotypic, genetic and electron microscopic aspects. Biochim Biophys Acta 1204 : 131-148, 1994.
PubMed
2) Inoue T, Kanzaki A, Yawata A, et al : Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population. Int J Hematol 60 : 227-238, 1994.
 
3) Bouhassira EE, Schwartz RS, Yawata Y, et al : An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2 NIPPON). Blood 79 : 1846-1854, 1992.
 
4) Yawata Y, Kanzaki A, Yawata A, et al : Hereditary Red Cell Membrane Disorders in Japan : Their Genotypic and Phenotypic Features in 1014 Cases Studied. Hematology 6 : 399-422, 2001.
PubMed
5) Yawata Y, Kanzaki A, Yawata A, et al : Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol 71 : 118-135, 2000.
PubMed
6) 神崎暁郎, 井上孝文, 和田秀穂, ほか : 赤血球の形態異常を伴うその他の溶血貧血-とくにband 4.2完全欠損症について-. 日本臨牀 54 : 2492-2501, 1996.
 
7) Takaoka Y, Ideguchi H, Matsuda M, et al : A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). Br J Haematol 88 : 527-533, 1994.
PubMed
8) Kanzaki A, Yawata Y, Yawata A, et al : Band 4.2 Komatsu : 523 GAT→TAT (175 Asp→Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. Int J Hematol 61 : 165-178, 1995.
 
9) Matsuda M, Hatano N, Ideguchi H, et al : A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2 Notame). Hum Mol Genet 4 : 1187-1191, 1995.
 
10) Kanzaki A, Yasunaga M, Okamoto N, et al : Band 4.2 Shiga : 317 CGC→TGC in compound heterozygotes with 142 GCT→ACT results in band 4.2 deficiency and microspherocytosis. Br J Haematol 91 : 333-340, 1995.
 
11) Hammill AM, Risinger MA, Joiner CH, et al : Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient. Br J Haematol 152 : 780-783, 2011.
 
12) Bruce LJ, Ghosh S, King MJ, et al : Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man : an interaction between the Rh complex and the band 3 complex. Blood 100 : 1878-1885, 2002.
 
13) van den Akker E, Satchwell TJ, Pellegrin S, et al : Investigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (-) cells (mutations Chartres 1 and 2). Haematologica 95 : 1278-1286, 2010.
PubMed
14) Perrotta S, Iolascon A, Polito R, et al : 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. Haematologica 84 : 660-662, 1999.
 
15) Inoue T, Kanzaki A, Yawata A, et al : Electron microscopic and physicobiochemical studies on disorganization of the cytoskeletal network and integral protein (band 3) in red cells of band 4.2 deficiency with a mutation (codon 142 : GCT→ACT). Int J Hematol 59 : 157-175, 1994.
 
P.251 掲載の参考文献
1) 八幡義人 : 赤血球膜構造と赤血球形態. 三輪血液病学 第3版 (浅野茂隆, 池田康夫, 内山卓監), p128-p155, 文光堂, 2006.
 
2) Wong P : A basis of the acanthocytosis in inherited and acquired disorders. Med Hypotheses 62 : 966-969, 2004.
 
3) Franceschi LD, Tomelleri C, Matte A, et al : Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity. Blood 118 : 5652-5663, 2011.
 
4) Bassen FA, Kornzweig AL : Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5 : 381-387, 1950.
 
5) Takahashi M, Okazaki H, Ohashi K, et al : Current Diagnosis and Management of Abetalipoproteinemia. J Atheroscler Thromb 28 : 1009-1019, 2021.
PubMed
6) Wetterau JR, Aggerbeck LP, Bouma ME, et al : Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 258 : 999-1001, 1992.
PubMed
7) Jung HH, Danek A, Walker RH : Neuroacanthocytosis Syndromes. Orphanet J Rare Dis 6 : 68, 2011. [https://doi.org/10.1186/1750-1172-6-68]
 
8) Rampoldi L, Dobson-Stone C, Rubio JP, et al : A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28 : 119-120, 2001.
 
9) Ueno S, Maruki Y, Nakamura M, et al : The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28 : 121-122, 2001.
PubMed
10) Kurano Y, Nakamura M, Ichiba M, et al : In vivo distribution and localization of chorein. Biochem Biophys Res Commun 353 : 431-435, 2007.
PubMed
11) Shiokawa N, Nakamura M, Sameshima M, et al : Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin. Biochem Biophys Res Commun 441 : 96-101, 2013.
 
12) Lupo F, Tibaldi E, Matte A, et al : A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis. Blood 128 : 2976-2987, 2016.
 
13) 佐野輝, ほか : 神経有棘赤血球症診療の手引き. 厚生労働科学研究費補助金 (難治性疾患等政策研究事業) 神経変性疾患領域における基盤的調査研究班, 2017.
 
14) Roulis E, Hyland C, Flower R, et al : Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes : A Review. JAMA Neurol 75 : 1554-1562, 2018.
PubMed
15) Redman CM, Huima T, Robbins E, et al : Effect of phosphatidylserine on the shape of McLeod red cell acanthocytes. Blood 74 : 1826-1835, 1989.
PubMed
P.256 掲載の参考文献
1) Jaffe ER, Gottfried EL : Hereditary nonspherocytic hemolytic disease associated with an altered phospholipid composition of the erythrocytes. J Clin Invest 47 : 1375-1388, 1968.
PubMed
2) Yawata Y, Kanzaki A, Yawata A, et al : Hereditary Red Cell Membrane Disorders in Japan : Their Genotypic and Phenotypic Features in 1014 Cases Studied. Hematology 6 : 399-422, 2001.
PubMed
3) 菅野仁, 小倉浩美 : 網羅的遺伝子解析による先天性溶血性貧血診断の意義と課題. 臨床血液 62 : 472-479, 2021.
 
4) Shohet SB, Nathan DG, Livermore BM, et al : Hereditary hemolytic anemia associated with abnormal membrane lipid. II. Ion permeability and transport abnormalities. Blood 42 : 1-8, 1973.
PubMed
5) Clark MR, Shohet SB, Gottfried EL : Hereditary hemolytic disease with increased red blood cell phosphatidylcholine and dehydration : one, two, or many disorders? Am J Hematol 42 : 25-30, 1993.
PubMed
6) Delaunay J : The hereditary stomatocytoses : genetic disorders of the red cell membrane permeability to monovalent cations. Semin Hematol 41 : 165-172, 2004.
PubMed
7) Ellory JC, Gibson JS, Stewart GW : Pathophysiology of abnormal cell volume in human red cells. Contrib Nephrol 123 : 220-239, 1998.
PubMed
8) Shohet SB, Livermore BM, Nathan DG, et al : Hereditary hemolytic anemia associated with abnormal membrane lipids : mechanism of accumulation of phosphatidyl choline. Blood 38 : 445-456, 1971.
PubMed
9) Lane PA, Kuypers FA, Clark MR, et al : Excess of red cell membrane proteins in hereditary high-phosphatidylcholine hemolytic anemia. Am J Hematol 34 : 186-192, 1990.
PubMed
10) Albuisson J, Murthy SE, Bandell M, et al : Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Nat Commun 4 : 1884, 2013.
PubMed
11) Rapetti-Mauss R, Lacoste C, Picard V, et al : A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood 126 : 1273-1280, 2015.
PubMed
12) Imashuku S, Muramatsu H, Sugihara T, et al : PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. Int J Hematol 104 : 125-129, 2016.
 
13) Otsuka A, Sugihara T, Yawata Y : No beneficial effect of splenectomy in hereditary high red cell membrane phosphatidylcholine hemolytic anemia : clinical and membrane studies of 20 patients. Am J Hematol 34 : 8-14, 1990.
PubMed
14) Stewart GW, et al : Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Br J Haematol 93 : 303-310, 1996.
PubMed
15) Picard V, Guitton C, Thuret I, et al : Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy : a retrospective series of 126 patients. Haematologica 104 : 1554-1564, 2019.
PubMed
P.261 掲載の参考文献
1) Norum KR, Gjone E : Familial plasma lecithin : cholesterol acyltransfearse deficiency. Biochemical study of a new inborn error of metabolism. Scand J Clin Lab Invest 20 : 231-243, 1967.
 
2) McLean J, Fielding C, Drayna D, et al : Cloning and expression of human lecithin-cholesterol acyltransferase cDNA. Proc Natl Acad Sci USA 83 : 2335-2339, 1986.
PubMed
3) Murata Y, Maeda E, Yoshino G, et al : Cloning of rabbit LCAT cDNA : increase in LCAT mRNA abundance in the liver of cholesterol-fed rabbits. J Lipid Res 37 : 1616-1622, 1996.
PubMed
4) The Human Gene Mutation Database (HGMD). [http://www.hgmd.cf.ac.uk/ac/index.php]
PubMed
5) Kuroda M, Bujo H, Yokote K, et al : Current status of familial LCAT deficiency in Japan. J Atheroscler Thromb 28 : 679-691, 2021.
PubMed
6) Kuivenhoven JA, Pritchard H, Hill J, et al : The molecular pathology of lecithin : cholesterol acy