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.

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American Journal of Hematology
Department of Molecular Genetics

Patrinos, G., Samperi, P., Nigro, L., Kollia, P., Schiliro, G., & Papadakis, M. (2005). Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the βS/benin haplotype. American Journal of Hematology, 80(1), 79–80. doi:10.1002/ajh.20400