Atypical haplotypes linked to the βs gene in Africa are likely to be the product of recombination

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Abstract
We report here the haplotypes of 10 Mstll-defined SS patients and a S/β0 thalassemia from the Central African Republic, exhibiting 7 different atypical haplotypes that are different from the typical Bantu haplotype that characterize over 93% of the βs bearing chromosomes in that region of Africa. Of the seven atypical haplotypes, six can be easily interpreted as the result of recombination around the “hot spot” 5′ of the β gene, between a typical Bantu haplotype and other haplotypes available in the normal population. Except for one case that requires further study, this result demonstrates that the main mutational event leading to sickle hemoglobin in Bantu-speaking Africa was the mutation of the β gene in a Bantu haplotype background.