Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the βS/benin haplotype

Abstract

There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the βS/Bantu haplotype is heterogeneous at the molecular level. Here, we report the presence of the Aγ-499 T→A variation in sickle cell anemia chromosomes of Sicilian and North African origin bearing the βS/Benin haplotype. Being absent from North American βS/Benin chromosomes, which were studied previously, this variation is indicative for the molecular heterogeneity of the βS/Benin haplotype. © 2005 Wiley-Liss, Inc.