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Updated: Jan 5, 2026

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Published on: September 14, 2018
BCL2L1 is associated with γ-globin gene expression.
Yan Dai1, Elmutaz M Shaikho1,2, Jessica Perez1
1Department of Medicine, Boston University School of Medicine, Boston, MA.
BCL2L1 protein is linked to fetal hemoglobin (HbF) gene activation. Inhibiting BCL2L1 reduces HbF expression, while overexpressing it increases fetal hemoglobin (HbF) levels in blood cells.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Fetal hemoglobin (HbF) expression is regulated by known genetic factors.
- Previous research suggested a link between BCL2L1 and HbF expression.
Purpose of the Study:
- To investigate the role of BCL2L1 in regulating fetal hemoglobin (HbF) gene expression.
Main Methods:
- Analysis of Genotype-Tissue Expression (GTEx) database.
- Correlation analysis of BCL2L1 mRNA with HBG mRNA and HbF concentration in patient-derived erythroid progenitors.
- Functional studies involving BCL2L1 inhibition and overexpression in cell lines (HUDEP-1) and primary erythroid progenitors.
Main Results:
- BCL2L1 mRNA levels positively correlated with HBG mRNA and HbF concentration in sickle cell disease patients.
- BCL2L1 inhibition decreased HBG expression.
- BCL2L1 overexpression significantly increased HBG expression and F cells in both cell lines and primary cells without major effects on differentiation, proliferation, or survival.
Conclusions:
- BCL2L1 is associated with fetal hemoglobin (HbF) gene activation.
- BCL2L1 may serve as a potential therapeutic target for increasing HbF levels.
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