BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies

Blood Cells Mol Dis. 2008 Nov-Dec;41(3):255-258. doi: 10.1016/j.bcmd.2008.06.007. Epub 2008 Aug 8.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Anemia, Sickle Cell / genetics
  • Anemia, Sickle Cell / metabolism
  • Asian People / genetics
  • Black or African American / genetics
  • Carrier Proteins / genetics*
  • Fetal Hemoglobin / genetics*
  • Fetal Hemoglobin / metabolism
  • Hemoglobinopathies / genetics*
  • Hemoglobinopathies / metabolism
  • Humans
  • Introns
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci*
  • Repressor Proteins
  • Thailand
  • beta-Thalassemia / genetics
  • beta-Thalassemia / metabolism

Substances

  • BCL11A protein, human
  • Carrier Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • Fetal Hemoglobin