Evolution of the Hemoglobin S and C Genes in World Populations

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Abstract
A polymorphic Hpa I endonuclease recognition site on the 3′ side of the β-globin gene was used to analyze the evolution of the β-globin gene mutants S and C. Study of the worldwide distribution of the normal and variant Hpa I sites showed that the mutation which resulted in the variant 13.0-kilobase fragment arose in a localized region in West Africa. It predated the hemoglobin S and C mutations, both of which arose separately from a chromosome with the variant 13.0-kilobase Hpa I site. In contrast, the sickle genes in other parts of Africa and in Asia are associated with the normal 7.6-kilobase Hpa I fragment, indicating that the sickle mutations in these other areas arose separately from that in West Africa.