Dataset Information

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

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.

SUBMITTER: Sedgewick AE

PROVIDER: S-EPMC4100606 | biostudies-literature | 2008 Nov-Dec

REPOSITORIES: biostudies-literature

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

Sedgewick Amanda E AE Timofeev Nadia N Sebastiani Paola P So Jason C C JCC Ma Edmond S K ESK Chan Li Chong LC Fucharoen Goonnapa G Fucharoen Supan S Barbosa Cynara G CG Vardarajan Badri N BN Farrer Lindsay A LA Baldwin Clinton T CT Steinberg Martin H MH Chui David H K DHK

Blood cells, molecules & diseases 20080808 3

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-thal ...[more]

PMID: 18691915

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Dataset Information

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

Publications

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

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