Figure 1.

Schematic representation of the transcription factor binding sites in the erythroid enhancer region located in intron 2 of the BCL11A gene. The binding of the GATA1 transcription factor increases the BCL11A expression, resulting in a decreased expression of γ-globin gene. Disruption of the erythroid-specific enhancer of BCL11A by gene editing determines an increased expression of γ-globin and HbF production. This approach is an effective therapeutic strategy for the treatment of β-thal and SCD patients.