Inherited thrombocytopenia: Novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan

Research output: Contribution to journalReview articlepeer-review


Colleges, School and Institutes


The study of patients with inherited bleeding problems is a powerful approach in determining the function and regulation of important proteins in human platelets and their precursor the megakaryocyte. The normal range of platelet counts in the bloodstream ranges from 150,000 to 400,000 platelets per microlitre and is normally maintained within a narrow range for each individual. This requires a constant balance between thrombopoiesis, which is primarily controlled by the cytokine thrombopoietin (TPO), and platelet senescence and consumption. Thrombocytopenia can be defined as a platelet count of less than 150,000 per microlitre and can be acquired or inherited. Heritable forms of thrombocytopenia are caused by mutations in genes involved in megakaryocyte differentiation, platelet production and platelet removal. In this review we will discuss the main causative genes known for inherited thrombocytopenia and highlight their diverse functions and whether this give clues on the processes of platelet production, platelet function and platelet lifespan. Additionally we will highlight the recent advances in novel genes identified for inherited thrombocytopenia and their suggested function.


Original languageEnglish
Pages (from-to)519-525
Issue number6
Early online date30 Mar 2016
Publication statusPublished - 2016


  • Inherited thrombocytopenia, megakaryocytes, platelets, gene mutations, bleeding