Inherited thrombocytopenias: molecular mechanisms

Semin Thromb Hemost. 2004 Oct;30(5):513-23. doi: 10.1055/s-2004-835672.

Abstract

Each megakaryocyte forms 10(3) platelets and 10(11) platelets are replenished daily. The unique and amazing mechanisms that allow megakaryocytes to become giant and polyploid and to release such a large number of platelets are still poorly understood. The study of inherited thrombocytopenias offers the possibility to gain new information on these processes because several different forms, deriving from defective megakaryocytic commitment, differentiation, maturation, or platelet formation, have been identified. Moreover, in the presence of some genetic defects, megakaryocytes produce platelets with a shortened life span. In this review, we summarize what we have learned about inherited thrombocytopenias in the last few years.

Publication types

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

MeSH terms

  • Bernard-Soulier Syndrome / blood
  • Blood Platelet Disorders
  • Blood Platelets / cytology
  • Cell Differentiation
  • Cell Survival
  • Chromosomes, Human, X
  • Female
  • Hematopoiesis
  • Humans
  • Male
  • Megakaryocytes / cytology
  • Models, Biological
  • Syndrome
  • Thrombocytopenia / blood
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics*
  • Wiskott-Aldrich Syndrome / blood