| Literature DB >> 18691915 |
Amanda E Sedgewick1, Nadia Timofeev1, Paola Sebastiani1, Jason C C So2, Edmond S K Ma2, Li Chong Chan2, Goonnapa Fucharoen3, Supan Fucharoen3, Cynara G Barbosa4, Badri N Vardarajan5, Lindsay A Farrer1,5,6, Clinton T Baldwin5,7, Martin H Steinberg4, David H K Chui4.
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.Entities:
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Year: 2008 PMID： 18691915 PMCID： PMC4100606 DOI： 10.1016/j.bcmd.2008.06.007
Source DB: PubMed Journal: Blood Cells Mol Dis ISSN： 1079-9796 Impact factor: 3.039