KEGG   DISEASE: 東南アジア楕円赤血球症
エントリ  
H01720                      Disease                                
名称    
東南アジア楕円赤血球症
概要    
Southeast Asian ovalocytosis (SAO) is a very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic, with prevalence varying between 5% and 25%. SAO is now known to be caused by a 27 base-pair deletion in SLC4A1, which codes for band 3, a 911 amino acid protein that is both a structural component of the red cell membrane cytoskeleton and the chloride-bicarbonate anion-exchanger in this membrane. SAO is believed to have evolved because these parts of Southeast Asia historically have had a high incidence of Plasmodium falciparum malaria, against which SAO offers clinical protection. Individuals with SAO are characterized as having oval-shaped red blood cells with increased membrane rigidity and decreased anion transport, but no clinical symptoms beyond sporadic associations with anemia in both adults and neonates. The diagnosis is made accidentally as a result of a peripheral blood smear examination, showing the characteristic rounded elliptocytes (ovalocytes).
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
      H01720  東南アジア楕円赤血球症
病因遺伝子 
(SAO) SLC4A1 [HSA:6521] [KO:K06573]
コメント  
See also H00361 Malaria.
リンク   
ICD-11: 3A10.Y
MeSH: C566231
OMIM: 166900
文献    
  著者
Andolfo I, Russo R, Gambale A, Iolascon A
  タイトル
New insights on hereditary erythrocyte membrane defects.
  雑誌
Haematologica 101:1284-1294 (2016)
DOI:10.3324/haematol.2016.142463
文献    
  著者
Wrong O, Bruce LJ, Unwin RJ, Toye AM, Tanner MJ
  タイトル
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
  雑誌
Kidney Int 62:10-9 (2002)
DOI:10.1046/j.1523-1755.2002.00417.x
文献    
  著者
Paquette AM, Harahap A, Laosombat V, Patnode JM, Satyagraha A, Sudoyo H, Thompson MK, Yusoff NM, Wilder JA
  タイトル
The evolutionary origins of Southeast Asian Ovalocytosis.
  雑誌
Infect Genet Evol 34:153-9 (2015)
DOI:10.1016/j.meegid.2015.06.002
文献    
PMID:1722314
  著者
Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, Rubin HL, Zhai S, Sahr KE, Liu SC
  タイトル
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
  雑誌
Proc Natl Acad Sci U S A 88:11022-6 (1991)
DOI:10.1073/pnas.88.24.11022
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