Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotype

Am J Hematol. 2005 Sep;80(1):79-80. doi: 10.1002/ajh.20400.

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 beta(S)/Bantu haplotype is heterogeneous at the molecular level. Here, we report the presence of the (A)gamma -499 T-->A variation in sickle cell anemia chromosomes of Sicilian and North African origin bearing the beta(S)/Benin haplotype. Being absent from North American beta(S)/Benin chromosomes, which were studied previously, this variation is indicative for the molecular heterogeneity of the beta(S)/Benin haplotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa, Northern
  • Anemia, Sickle Cell / genetics*
  • Chromosome Mapping*
  • Globins / genetics*
  • Haplotypes
  • Hemoglobins / genetics*
  • Humans
  • Italy

Substances

  • Hemoglobins
  • Globins