Downregulation of ZBTB7A/LRF increases fetal hemoglobin expression in β⁰-thalassemia/hemoglobin E erythroid cells.

ABSTRACT: Zinc finger and BTB domain-containing 7A (ZBTB7A) is a transcription factor repressor of fetal hemoglobin (HbF; α₂γ₂) in erythroid cells. Reactivating γ-globin expression represents a promising therapeutic strategy for β-hemoglobinopathies, including β-thalassemia. While ZBTB7A knockdown is known to elevate HbF levels in HUDEP-2 erythroid cell line and human hematopoietic stem/progenitor cell (HSPC)-derived erythroblasts, its effects in patient-derived cells remain less defined. This study investigates the effects of ZBTB7A downregulation in erythroid cells derived from both β⁰ thalassemia/hemoglobin E (β⁰-thal/HbE) patients and healthy donors. ZBTB7A knockdown upregulated embryonic and fetal globin genes (ε-, ζ-, γ-globin), and robust HbF induct

SUBMITTER: Chumchuen S 

PROVIDER: S-EPMC12715185 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature