| H01196 | |
| H number | H01196 |
| Name | Hypochromic microcytic anemia |
| Description | 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. |
| Category | Hematologic disease |
| Network | nt06525(H01196) Ferroptosis |
| Gene | (AHMIO1) SLC11A2 [HSA:4891] [KO:K21398] (AHMIO2) STEAP3 [HSA:55240] [KO:K10142] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A00.Y ICD-10: D50.8 OMIM: 206100 615234 |
| Reference | PMID:15459009 (SLC11A2) AUTHORS Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT TITLE Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. JOURNAL Blood 105:1337-42 (2005) DOI:10.1182/blood-2004-07-2966 PMID:22031863 (STEAP3) AUTHORS 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 TITLE A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. JOURNAL Blood 118:6660-6 (2011) DOI:10.1182/blood-2011-01-329011 |