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Hb Chad orα223(B4)GLU→LYSβ2Observed in Members of a Surinam Family in Association withα-Thalassemia-2 and with HB S

 

作者: CodringtonJ. F.,   CodringtonF. A.,   WisseJ. H.,   WilsonJ. B.,   WebberB. B.,   WongS. C.,   HuismanT. H. J.,  

 

期刊: Hemoglobin  (Taylor Available online 1989)
卷期: Volume 13, issue 6  

页码: 543-556

 

ISSN:0363-0269

 

年代: 1989

 

DOI:10.3109/03630268908993105

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

Three different hemoglobinopathies, i.e. Hb S, Hb Chad [α23 (B4)Glu→Lys], andα-thalassemia-2 (−3.7) have been observed in eight members of a family from Surinam. The proposita had all three abnormalities, while her mother and four of her half-brothers had Hb Chad together with anα-thalassemia-2 heterozygosity or homozygosity. Gene mapping and dot-blot analysis of amplified DNA identified a G→A mutation in codon 23 of theα2αl hybrid gene resulting in the Glu→Lys substitution. The quantity of theα-Chad chain averaged 31.5% in its carriers with an additionalα-thalassemia-2 heterozygosity [-αCnad(−3.7 kb)/αα], and 43% in the two carriers with an additionalα-thalassemia-2 homozygosity [-αChad(−3.7 kb)/-α(3.7 kb)]. These quantities are considerably higher than those reported for families from Chad, China, and Japan; the low levels of 14.5-24% Hb Chad in members of previously reported cases suggest a mutation on a chromosome with twoα-globin genes [ααChad/ααorαChadα/αα].

 

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