KEGG   DISEASE: 熱変形赤血球症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  貧血または他の赤血球系疾患
   溶血性貧血
    先天性溶血性貧血
     3A10  遺伝性溶血性貧血
      H01125  熱変形赤血球症
パスウェイ 
hsa04210  Apoptosis
病因遺伝子 
SPTA1 [HSA:6708] [KO:K27408]
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
OMIM: 266140
文献    
  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
文献    
  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
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