KEGG   DISEASE: 鎌状赤血球症
エントリ  
H00229                                                             
名称    
鎌状赤血球症;
鎌状赤血球貧血
概要    
Sickle cell disease, also known as Sickle cell anaemia, is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.
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
   3A51  鎌状赤血球系疾患またはその他の異常ヘモグロビン症
    H00229  鎌状赤血球症
病因遺伝子 
HBB [HSA:3043] [KO:K13823]
リンク   
ICD-11: 3A51
MeSH: D000755
OMIM: 603903
文献    
  著者
Steinberg MH
  タイトル
Pathophysiologically based drug treatment of sickle cell disease.
  雑誌
Trends Pharmacol Sci 27:204-10 (2006)
DOI:10.1016/j.tips.2006.02.007
文献    
  著者
De Franceschi L, Corrocher R
  タイトル
Established and experimental treatments for sickle cell disease.
  雑誌
Haematologica 89:348-56 (2004)
文献    
  著者
Bunn HF
  タイトル
Induction of fetal hemoglobin in sickle cell disease.
  雑誌
Blood 93:1787-9 (1999)
文献    
PMID:9287233
  著者
Bunn HF
  タイトル
Pathogenesis and treatment of sickle cell disease.
  雑誌
N Engl J Med 337:762-9 (1997)
DOI:10.1056/NEJM199709113371107
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