南非人群中的遗传性血红蛋白变异体。
Inherited haemoglobin variants in a South African population.
作者信息
Bird A R, Ellis P, Wood K, Mathew C, Karabus C
出版信息
J Med Genet. 1987 Apr;24(4):215-9. doi: 10.1136/jmg.24.4.215.
We present the findings of a survey to determine the prevalence of inherited haemoglobin disorders in the Coloured (mixed ethnic origin) population of South Africa. A variety of haemoglobins was found. Of the structural variants, Hb E and Hb S were the most common, the former probably originating from South-East Asia and the latter from East Africa and possibly Madagascar. The alpha+ (-alpha) thalassaemia haplotype is particularly common with an observed frequency of 0.023. Beta thalassaemia was rather less common, while hereditary persistence of fetal haemoglobin was found for the first time in this population group, occurring in two subjects.
我们展示了一项调查的结果，该调查旨在确定南非有色人种（混合种族起源）群体中遗传性血红蛋白疾病的患病率。发现了多种血红蛋白。在结构变异体中，Hb E和Hb S最为常见，前者可能起源于东南亚，后者起源于东非，也可能来自马达加斯加。α+（-α）地中海贫血单倍型尤为常见，观察到的频率为0.023。β地中海贫血则不太常见，而胎儿血红蛋白遗传性持续现象在该人群组中首次被发现，有两名受试者出现此情况。
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