| H01125 | |
| H番号 | H01125 |
| 名称 | 熱変形赤血球症 |
| 概要 | 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. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | SPTA1 [HSA:6708] [KO:K06114] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | In vitro studies suggest that it may confer some resistance to infection with the malarial parasite Plasmodium falciparum [DS:H00361]. |
| リンク | ICD-11: 3A10.2 ICD-10: D58.1 OMIM: 266140 |
| 文献 | PMID:18815189 著者 Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG タイトル Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. 雑誌 Haematologica 93:1752-4 (2008) DOI:10.3324/haematol.13639 PMID:17279012 著者 Ramos MC, Schafernak KT, Peterson LC タイトル Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. 雑誌 J Pediatr Hematol Oncol 29:128-9 (2007) DOI:10.1097/MPH.0b013e3180320b6f |