| H00982 | |
| H番号 | H00982 |
| 名称 | 遺伝性鉄芽球性貧血 |
| 概要 | Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | (SIDBA1) ALAS2 [HSA:212] [KO:K00643] (SIDBA2) SLC25A38 [HSA:54977] [KO:K15118] (SIDBA3) GLRX5 [HSA:51218] [KO:K07390] (SIDBA4) HSPA9 [HSA:3313] [KO:K04043] (SIDBA5) HSCB [HSA:150274] [KO:K04082] (ASAT) ABCB7 [HSA:22] [KO:K05662] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is described in H00898. [DS:H00898] |
| リンク | ICD-11: 3A72 ICD-10: D64.0 D64.3 OMIM: 300751 205950 616860 182170 619523 301310 |
| 文献 | PMID:20848343 著者 Harigae H, Furuyama K タイトル Hereditary sideroblastic anemia: pathophysiology and gene mutations. 雑誌 Int J Hematol 92:425-31 (2010) DOI:10.1007/s12185-010-0688-4 PMID:1570328 (ALAS2) 著者 Cotter PD, Baumann M, Bishop DF タイトル Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. 雑誌 Proc Natl Acad Sci U S A 89:4028-32 (1992) DOI:10.1073/pnas.89.9.4028 PMID:19412178 (SLC25A38) 著者 Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME タイトル Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. 雑誌 Nat Genet 41:651-3 (2009) DOI:10.1038/ng.359 PMID:17485548 (GLRX5) 著者 Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A タイトル The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. 雑誌 Blood 110:1353-8 (2007) DOI:10.1182/blood-2007-02-072520 PMID:26491070 (HSPA9) 著者 Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD タイトル Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. 雑誌 Blood 126:2734-8 (2015) DOI:10.1182/blood-2015-09-659854 PMID:32634119 (HSCB) 著者 Crispin A, Guo C, Chen C, Campagna DR, Schmidt PJ, Lichtenstein D, Cao C, Sendamarai AK, Hildick-Smith GJ, Huston NC, Boudreaux J, Bottomley SS, Heeney MM, Paw BH, Fleming MD, Ducamp S タイトル Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. 雑誌 J Clin Invest 130:5245-5256 (2020) DOI:10.1172/JCI135479 PMID:11050011 (ABCB7) 著者 Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF タイトル Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. 雑誌 Blood 96:3256-64 (2000) DOI:10.1182/blood.V96.9.3256 |