Inherited thrombocytopenia due to GATA-1 mutations

Semin Thromb Hemost. 2011 Sep;37(6):682-9. doi: 10.1055/s-0031-1291378. Epub 2011 Nov 18.


The GATA family of transcription factors, including the founding member, GATA-1, have an important role in gene regulation. GATA-1 is integral to successful hematopoiesis. A wide variety of mutations in GATA-1 affect its function, as well as its interaction with its cofactors (especially Friend of GATA) and the genes upon which GATA-1 acts. Here we review the known mutations, focusing on the specific alterations within the amino acid sequence, the resulting effect on hematopoietic development, and the clinical manifestations that result. Attention is also paid to the relationship between Trisomy 21, also known as Down syndrome, and the phenomenon of a truncated GATA-1, named GATA-1s. The evidence for specific interaction between GATA-1 and chromosome 21, which may explain the correlation between these two mutations, is briefly reviewed.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Down Syndrome / genetics
  • GATA1 Transcription Factor / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Mutation*
  • Thrombocytopenia / genetics*
  • Thrombopoiesis / genetics


  • GATA1 Transcription Factor
  • GATA1 protein, human