| H00982 | |
| H number | H00982 |
| Name | Sideroblastic anemia |
| Description | 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. |
| Category | Hematologic disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is described in H00898. [DS:H00898] |
| Other DBs | ICD-11: 3A72 ICD-10: D64.0 D64.3 OMIM: 300751 205950 616860 182170 619523 301310 |
| Reference | PMID:20848343 AUTHORS Harigae H, Furuyama K TITLE Hereditary sideroblastic anemia: pathophysiology and gene mutations. JOURNAL Int J Hematol 92:425-31 (2010) DOI:10.1007/s12185-010-0688-4 PMID:1570328 (ALAS2) AUTHORS Cotter PD, Baumann M, Bishop DF TITLE Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. JOURNAL Proc Natl Acad Sci U S A 89:4028-32 (1992) DOI:10.1073/pnas.89.9.4028 PMID:19412178 (SLC25A38) AUTHORS 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 TITLE Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. JOURNAL Nat Genet 41:651-3 (2009) DOI:10.1038/ng.359 PMID:17485548 (GLRX5) AUTHORS Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A TITLE The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. JOURNAL Blood 110:1353-8 (2007) DOI:10.1182/blood-2007-02-072520 PMID:26491070 (HSPA9) AUTHORS 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 TITLE Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. JOURNAL Blood 126:2734-8 (2015) DOI:10.1182/blood-2015-09-659854 PMID:32634119 (HSCB) AUTHORS 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 TITLE Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. JOURNAL J Clin Invest 130:5245-5256 (2020) DOI:10.1172/JCI135479 PMID:11050011 (ABCB7) AUTHORS Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF TITLE Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. JOURNAL Blood 96:3256-64 (2000) DOI:10.1182/blood.V96.9.3256 |