Mutations in the hematopoietic transcription factor GATA-1 alter the 
proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 
interfere with the synthesis of the full-length isoform of GATA-1 and lead to 
the production of a shortened isoform, GATA-1s. These mutations have been found 
in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia 
typically caused by mutations in genes encoding ribosomal proteins. We sequenced 
GATA-1 in 23 patients that were negative for mutations in the most frequently 
mutated DBA genes. One patient showed a c.2T > C mutation in the initiation 
codon leading to the loss of the full-length GATA-1 isoform.