GATA1 and its cofactors interaction are important in megakaryocyte development since GATA1 recognition site is present in promoter sites for many megakaryocyte-expressed genes.[16] Some mutations involving exon 2 donor Splice site of GATA1 gene have recently been reported in patients with clinical features consistent with the current diagnostic criteria for Diamond Blackfan anemia (DBA) or with DBA like features. The gene discussed is GATA1; the disease is Diamond-Blackfan anemia.