Author/Authors :
Amanda E. Sedgewick، نويسنده , , Nadia Timofeev، نويسنده , , Paola Sebastiani، نويسنده , , Jason C.C. So، نويسنده , , Edmond S.K. Ma، نويسنده , , Li Chong Chan، نويسنده , , Goonnapa Fucharoen، نويسنده , , Supan Fucharoen، نويسنده , , Cynara G. Barbosa، نويسنده , , Badri N. Vardarajan، نويسنده , , Lindsay A. Farrer، نويسنده , , Clinton T. Baldwin، نويسنده , , Martin H. Steinberg، نويسنده , , David H.K. Chui، نويسنده ,
Abstract :
Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of β-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 β-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with β-thalassemia trait, and with HbF levels in Thais with either β-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.
