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In the present study, we identified a novel GATA zinc finger domain\u2010containing protein 2A (<jats:italic>GATAD2A<\/jats:italic>) mutation, which contributed to the elevation of HbF and ameliorated clinical severity in a patient with \u03b2\u2010thalassaemia, by targeted next\u2010generation sequencing. Knockout of <jats:italic>GATAD2A<\/jats:italic> led to a significant induction of HbF in both human umbilical cord blood\u2010derived erythroid progenitor\u20102 (HUDEP\u20102) and human cluster of differentiation (CD)34<jats:sup>+<\/jats:sup> cells with a detectable impact on erythroid differentiation. Furthermore, heterozygous knockout of <jats:italic>GATAD2A<\/jats:italic> impaired recruitment of chromodomain helicase DNA\u2010binding protein 4 (CHD4) to the methyl\u2010binding domain protein 2 (MBD2)\u2010containing nucleosome remodelling and deacetylation (NuRD) complex. Our present data suggest that mutations causing the haploinsufficiency of <jats:italic>GATAD2A<\/jats:italic> might contribute to amelioration of clinical severity in patients with \u03b2\u2010thalassaemia.<\/jats:p>","DOI":"10.1111\/bjh.17511","type":"journal-article","created":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T07:39:28Z","timestamp":1621237168000},"page":"1220-1227","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["GATA zinc finger domain\u2010containing protein 2A (<i>GATAD2A<\/i>) deficiency reactivates fetal haemoglobin in patients with \u03b2\u2010thalassaemia through impaired formation of methyl\u2010binding domain protein 2 (MBD2)\u2010containing nucleosome remodelling and deacetylation (NuRD) 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