BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies Academic Article uri icon

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abstract

  • Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of beta-thalassemia major and sickle cell anemia. Recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in BCL11A gene on chromosome 2p16.1 were correlated with F-cells among healthy northern Europeans, and HbF among Sardinians with beta-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia. Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A.

authors

  • Sedgewick, Amanda E
  • Timofeev, Nadia
  • Sebastiani, Paola
  • So, Jason CC
  • Ma, Edmond SK
  • Chan, Li Chong
  • Fucharoen, Goonnapa
  • Fucharoen, Supan
  • Barbosa, Cynara G
  • Vardarajan, Badri N
  • Farrer, Lindsay A
  • Baldwin, Clinton T
  • Steinberg, Martin H
  • Chui, David Hing-kwei

publication date

  • November 2008