BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies
Open accessAbstract
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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BCL11A is a repressor of HbF gene expression.
“BCL11A is a repressor of HbF gene expression.”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [15]
The Results and Discussion section (page unavailable) says BCL11A functions as a transcriptional repressor and that its variants are associated with HbF levels. It also says the mechanism by which BCL11A modulates HbF production was not understood; it does not establish that BCL11A represses HbF gene expression specifically. (LLM, conf=0.89)
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Self-citation
- Authors
- Sedgewick, A. E., Timofeev, N., Sebastiani, P., So, J. C. C., Ma, E. S. K., Chan, L. C., Fucharoen, G., Fucharoen, S., Barbosa, C. G., Vardarajan, B. N., Farrer, L. A., Baldwin, C. T., Steinberg, M. H., & Chui, D. H. K.
- Affiliations
- Boston University (US)
- Queen Mary Hospital (CN)
- Khon Kaen University (TH)
- Corresponding author
- Chui, David H.K.
- ORCID
- Venue
- Blood Cells, Molecules, and Diseases
- Publisher
- Elsevier BV
- Published
- 2008-11
- Volume
- 41
- Issue
- 3
- Pages
- 255-258
- ISSN
- 1079-9796 (ISSN-L)
- PMC
- PMC4100606
- OpenAlex
- W2049584544
- Cited by
- 172
- References
- 14
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 5 · 2023: 3 · 2022: 5 · 2021: 6 · 2020: 6 · 2019: 8 · 2018: 5 · 2017: 13 · 2016: 17 · 2015: 12 · 2014: 14 · 2013: 15 · 2012: 5
- FWCI
- 7.80
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Blood Cells Molecules and Diseases (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R01HL087681, R01HL068970, R01 HL 68970, U54HL070819, U54HL70819, R21HL080463)
- National Institute of General Medical Sciences (T32GM074905)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK069646)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Hemoglobin structure and function
- Keywords
- BCL11A, fetal hemoglobin, quantitative trait loci, beta-thalassemia, sickle cell disease, HbE trait, single nucleotide polymorphisms, intron 2, Chinese, Thai, African Americans
- MeSH terms
- Anemia, Sickle Cell, Black or African American, Carrier Proteins, Fetal Hemoglobin, Hemoglobinopathies, Humans, Introns, Nuclear Proteins, Repressor Proteins, Thailand, beta-Thalassemia, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Asian People
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