Human phenotypes associated with GATA-1 mutations

Wendy A. Ciovacco, Wendy H. Raskind, Melissa A. Kacena

Research output: Contribution to journalReview article

68 Scopus citations


GATA-1 is one of the six members of the GATA gene family, a group of related transcription factors discovered in the 1980s. In the past few decades, the crucial role of GATA-1 in normal human hematopoiesis has been delineated. As would be expected, mutations in GATA-1 have subsequently been found to have important clinical significance, and are directly linked to deregulated formation of certain blood cell lineages. This paper reviews the functional consequences of GATA-1 mutations by linking specific errors in the gene, or its downstream protein products, to documented human diseases. These five human diseases are: X-linked thrombocytopenia (XLT), X-linked thrombocytopenia with thalassemia (XLTT), congenital erythropoietic porphyria (CEP), transient myeloproliferative disorder (TMD) and acute megarakaryoblastic leukemia (AMKL) associated with Trisomy 21, and, lastly, a particular subtype of anemia associated with the production of GATA-1s, a shortened, mutant isoform of the wild-type GATA-1. The different phenotypic expressions associated with GATA-1 mutations illustrate the integral function of the transcription factor in overall body homeostasis. Furthermore, these direct genotype-phenotype correlations reinforce the importance of unraveling the human genome, as such connections may lead to important therapeutic or preventive therapies.

Original languageEnglish (US)
Pages (from-to)1-6
Number of pages6
Issue number1-2
StatePublished - Dec 31 2008


  • Acute megakaryoblastic leukemia
  • Congenital erythropoietic porphyria
  • GATA-1s
  • Gray platelet syndrome
  • Trisomy 21
  • X-linked thrombocytopenia
  • X-linked thrombocytopenia with thalassemia

ASJC Scopus subject areas

  • Genetics

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