Observational analysis revealed fetal hemoglobin increases in β-thalassemia patients via MAZ and MYB regulation.
β-hemoglobinopathies, such as sickle cell disease and β-thalassemia, are common genetic disorders remaining significant global health challenges due to their associated morbidity and mortality. Increasing fetal hemoglobin (HbF) levels has emerged as a promising therapeutic strategy for these disorders. In this study, we report Myc-associated zinc finger (MAZ) as an indirect repressor of γ-globin (HBG) expression in human erythroid cells. Depletion of MAZ in HUDEP-2 and patient-derived β-thalassemia cells leads to significant inductions of both HBG mRNA and protein levels, resulting in increased HbF percentages and HbF + erythroid cells. We demonstrate that MAZ occupies at the promoter of MYB, a well-known HBG repressor. MAZ depletion reduced MYB levels. Restoration of MYB re-silenced the HBG levels in MAZ depleted cells. Our findings uncover the MAZ-MYB axis in HBG regulation, highlighting MAZ as a potential target to enhance HbF levels in patients with hemoglobin disorders.
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Yang et al. (2025) studied this question.
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