| H00231 | |
| H number | H00231 |
| Name | Hereditary elliptocytosis |
| Description | Hereditary elliptocytosis (EL) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte membrane skeleton due to defects in alpha-spectrin, beta-spectrin, or protein 4.1. |
| Category | Hematologic disease |
| Network | - |
| Gene | (EL1) EPB41 [HSA:2035] [KO:K06107] (EL2) SPTA1 [HSA:6708] [KO:K06114] (EL3) SPTB [HSA:6710] [KO:K06115] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A10.2 ICD-10: D58.1 OMIM: 611804 130600 617948 |
| Reference | PMID:18341630 AUTHORS An X, Mohandas N TITLE Disorders of red cell membrane. JOURNAL Br J Haematol 141:367-75 (2008) DOI:10.1111/j.1365-2141.2008.07091.x PMID:16730867 AUTHORS Delaunay J TITLE The molecular basis of hereditary red cell membrane disorders. JOURNAL Blood Rev 21:1-20 (2007) DOI:10.1016/j.blre.2006.03.005 PMID:15071791 (EPB41 SPTA1 SPTB) AUTHORS Gallagher PG TITLE Hereditary elliptocytosis: spectrin and protein 4.1R. JOURNAL Semin Hematol 41:142-64 (2004) DOI:10.1053/j.seminhematol.2004.01.003 |