Partial skipping of exon 2 in the GATA1 gene occurs naturally to generate transcripts encoding shortened protein isoforms called GATA1s, and the deficiency of full-length GATA1 affects erythropoiesis.93 In DBA patients, mutations in the 3′ end splice site of exon 2 in the GATA1 gene were found to be almost eliminated.93 The gene discussed is GATA1; the disease is Diamond-Blackfan anemia.