KEGG   DISEASE: 一過性新生児チアノーゼ
エントリ  
H02930                                                             
名称    
一過性新生児チアノーゼ
概要    
Transient neonatal cyanosis is a rare inherited fetal hemoglobinopathy caused by mutations in the gamma-globin gene, HBG2. Clinical clues include reduced hemoglobin oxygen saturation without arterial hypoxemia. Fetal hemoglobin (HbF) is composed of two alpha and two gamma chains. Postnatally, globin expression shifts from gamma to beta, producing adult hemoglobin (HbA), composed of two alpha and two beta chains. Thus, symptoms gradually abate in the first months of life.
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
    H02930  一過性新生児チアノーゼ
病因遺伝子 
HBG2 [HSA:3048] [KO:K13824]
リンク   
ICD-11: 3A51.8
OMIM: 613977
文献    
  著者
Crowley MA, Mollan TL, Abdulmalik OY, Butler AD, Goodwin EF, Sarkar A, Stolle CA, Gow AJ, Olson JS, Weiss MJ
  タイトル
A hemoglobin variant associated with neonatal cyanosis and anemia.
  雑誌
N Engl J Med 364:1837-43 (2011)
DOI:10.1056/NEJMoa1013579
文献    
  著者
Dainer E, Shell R, Miller R, Atkin JF, Pastore M, Kutlar A, Zhuang L, Holley L, Davis DH, Kutlar F
  タイトル
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
  雑誌
Hemoglobin 32:596-600 (2008)
DOI:10.1080/03630260802507915
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