Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia

Blood. 2011 Jan 27;117(4):1390-2. doi: 10.1182/blood-2010-08-302703. Epub 2010 Nov 10.

Abstract

Fetal hemoglobin (HbF, α(2)γ(2)) is a major contributor to the remarkable phenotypic heterogeneity of sickle cell anemia (SCA). Genetic variation at 3 principal loci (HBB cluster on chromosome 11p, HBS1L-MYB region on chromosome 6q, and BCL11A on chromosome 2p) have been shown to influence HbF levels and disease severity in β-thalassemia and SCA. Previous studies in SCA, however, have been restricted to populations from the African diaspora, which include multiple genealogies. We have investigated the influence of these 3 loci on HbF levels in sickle cell patients from Tanzania and in a small group of African British sickle patients. All 3 loci have a significant impact on the trait in both patient groups. The results suggest the presence of HBS1L-MYB variants affecting HbF in patients who are not tracked well by European-derived markers, such as rs9399137. Additional loci may be identified through independent genome-wide association studies in African populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / ethnology*
  • Anemia, Sickle Cell / genetics*
  • Black People / genetics
  • Child
  • Child, Preschool
  • Female
  • Fetal Hemoglobin / genetics*
  • Genome-Wide Association Study
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Tanzania
  • United Kingdom
  • White People / genetics
  • Young Adult

Substances

  • Fetal Hemoglobin