| H01125 | |
| H number | H01125 |
| Name | Hereditary pyropoikilocytosis |
| Description | Hereditary pyropoikilocytosis (HPP) is a recessively inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation and microspherocytes. Erythrocytes from most HPP patients exhibit qualitative and quantitative abnormalities of the erythrocyte membrane protein spectrin, the principal structural component of the erythrocyte membrane skeleton. Qualitative spectrin defects are typically associated with missense mutations that lead to abnormal spectrin self-association, a process critical for membrane structure and function. |
| Category | Hematologic disease |
| Network | - |
| Gene | SPTA1 [HSA:6708] [KO:K06114] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | In vitro studies suggest that it may confer some resistance to infection with the malarial parasite Plasmodium falciparum [DS:H00361]. |
| Other DBs | ICD-11: 3A10.2 ICD-10: D58.1 OMIM: 266140 |
| Reference | PMID:18815189 AUTHORS Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG TITLE Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. JOURNAL Haematologica 93:1752-4 (2008) DOI:10.3324/haematol.13639 PMID:17279012 AUTHORS Ramos MC, Schafernak KT, Peterson LC TITLE Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. JOURNAL J Pediatr Hematol Oncol 29:128-9 (2007) DOI:10.1097/MPH.0b013e3180320b6f |