| H01196 | |
| H番号 | H01196 |
| 名称 | 小球性低色素性貧血 |
| 概要 | Hypochromic microcytic anemia has been associated with a defect of iron absorption due to reduced iron entry into intestinal cells. Several isoforms of NRAMP2 (SLC11A2) are expressed ubiquitously in recycling endosomes or specifically at the apical membrane of epithelial cells in intestine and kidneys, and can contribute to iron overload, whereas mutations impairing NRAMP2 function cause a form of congenital hypochromic microcytic anemia. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06525(H01196) Ferroptosis |
| 病因遺伝子 | (AHMIO1) SLC11A2 [HSA:4891] [KO:K21398] (AHMIO2) STEAP3 [HSA:55240] [KO:K10142] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A00.Y ICD-10: D50.8 OMIM: 206100 615234 |
| 文献 | PMID:15459009 (SLC11A2) 著者 Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT タイトル Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 雑誌 Blood 105:1337-42 (2005) DOI:10.1182/blood-2004-07-2966 PMID:22031863 (STEAP3) 著者 Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H タイトル A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. 雑誌 Blood 118:6660-6 (2011) DOI:10.1182/blood-2011-01-329011 |