Hematopoietic transcription factor mutations and inherited platelet dysfunction

Natthapol Songdej, A. Koneti Rao

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations


The molecular and genetic mechanisms in most patients with inherited platelet dysfunction are unknown. There is increasing evidence that mutations in hematopoietic transcription factors are major players in the pathogenesis of defective megakaryopoiesis and platelet dysfunction in patients with inherited platelet disorders. These hematopoietic transcription factors include RUNX1, FLI1, GATA-1, and GFI1B. Mutations involving these transcription factors affect diverse aspects of platelet production and function at the genetic and molecular levels, culminating in clinical manifestations of thrombocytopenia and platelet dysfunction. This review focuses on these hematopoietic transcription factors in the pathobiology of inherited platelet dysfunction.

Original languageEnglish (US)
Article number66
JournalF1000Prime Reports
StatePublished - May 26 2015

All Science Journal Classification (ASJC) codes

  • General Medicine


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