Format

Send to

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

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

Author information

1
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
2
Department of Pathology, the University of Hong Kong Faculty of Medicine, and Queen Mary Hospital, Hong Kong, China.
3
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
4
Division of Hematology/Oncology, Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
5
Genetics Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.
6
Departments of Neurology, Genetics & Genomics, and Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts, USA.
7
Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, USA.
#
Contributed equally

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.

PMID:
18691915
PMCID:
PMC4100606
DOI:
10.1016/j.bcmd.2008.06.007
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center