| 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 | (PRARSA) SLC25A38 [HSA:54977] [KO:K15118] (PRARSA) GLRX5 [HSA:51218] [KO:K07390] (XLSA) ALAS2 [HSA:51218] [KO:K07390] (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: 205950 300751 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 |