GATA zinc finger domain‐containing protein 2A (GATAD2A) deficiency reactivates fetal haemoglobin in patients with β‐thalassaemia through impaired formation of methyl‐binding domain protein 2 (MBD2)‐containing nucleosome remodelling and deacetylation (NuRD) complex

Abstract excerpt

Summary Reactivation of fetal haemoglobin (HbF) expression is an effective way to treat β‐thalassaemia and sickle cell anaemia. In the present study, we identified a novel GATA zinc finger domain‐containing protein 2A (GATAD2A) mutation, which contributed to the elevation of HbF and ameliorated clinical severity in a patient with β‐thalassaemia, by targeted next‐generation sequencing. Knockout of GATAD2A led to a...

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