Inherited haemoglobin variants in a South African population

Abstract

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 α+ (-α) thalassaemia haplotype is particularly common with an observed frequency of 0.023. β thalasssaemia was rather less common, while hereditary persistence of fetal haemoglobin was found for the first time in this population group, occurring in two subjects.