Loss of GATA-1 Full Length as a Cause of Diamond-Blackfan Anemia Phenotype

Pediatr Blood Cancer. 2014 Jul;61(7):1319-21. doi: 10.1002/pbc.24944. Epub 2014 Jan 22.


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.

Keywords: Diamond-Blackfan; Gata-1; anemia; erythropoiesis; ribosomal protein.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Diamond-Blackfan / genetics*
  • Codon, Initiator / genetics*
  • Female
  • GATA1 Transcription Factor / genetics*
  • Humans
  • Male
  • Point Mutation*
  • Protein Isoforms / genetics


  • Codon, Initiator
  • GATA1 Transcription Factor
  • GATA1 protein, human
  • Protein Isoforms