BCL11A is a Major HbF Quantitative Trait Locus in Three Different Populations with Beta-hemoglobinopathies

Overview

Journal Blood Cells Mol Dis

Specialty Hematology

Date 2008 Aug 12

PMID 18691915

Citations 77

Authors

Amanda E Sedgewick

Nadia Timofeev

Paola Sebastiani

Jason C C So

Edmond S K Ma

Li Chong Chan

Goonnapa Fucharoen

Supan Fucharoen

Cynara G Barbosa

Badri N Vardarajan

Lindsay A Farrer

Clinton T Baldwin

Martin H Steinberg

David H K Chui

Affiliations

Soon will be listed here.

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.

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