Inherited thrombocytopenias: Molecular mechanisms

Carlo L. Balduini, Anna Savoia

Research output: Contribution to journalArticlepeer-review


Each megakaryocyte forms 103 platelets and 1011 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.

Original languageEnglish
Pages (from-to)513-523
Number of pages11
JournalSeminars in Thrombosis and Hemostasis
Issue number5
Publication statusPublished - Oct 2004


  • Bleeding
  • Inherited thrombocytopenias
  • Megakaryocytes
  • Pathogenesis
  • Platelets

ASJC Scopus subject areas

  • Hematology


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