Inherited thrombocytopenia due to GATA-1 mutations

Patrick D. Millikan, Sanjeev M. Balamohan, Wendy H. Raskind, Melissa A. Kacena

Research output: Contribution to journalArticle

32 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)682-689
Number of pages8
JournalSeminars in Thrombosis and Hemostasis
Issue number6
StatePublished - 2011


  • Friend of GATA
  • GATA-1
  • megakaryocytes
  • thrombocytopenia
  • Trisomy 21

ASJC Scopus subject areas

  • Hematology
  • Cardiology and Cardiovascular Medicine

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