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Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.
- Source :
-
Platelets [Platelets] 2016 Sep; Vol. 27 (6), pp. 519-25. Date of Electronic Publication: 2016 Mar 30. - Publication Year :
- 2016
-
Abstract
- 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 microliter 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 microliter 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 these 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.
- Subjects :
- Animals
Apoptosis genetics
Blood Platelets metabolism
Cell Differentiation genetics
Cellular Senescence genetics
Genetic Predisposition to Disease
Humans
Megakaryocytes cytology
Megakaryocytes metabolism
Mutation
Thrombocytopenia blood
Thrombopoiesis genetics
Genetic Association Studies
Thrombocytopenia genetics
Thrombocytopenia metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1369-1635
- Volume :
- 27
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Platelets
- Publication Type :
- Academic Journal
- Accession number :
- 27025194
- Full Text :
- https://doi.org/10.3109/09537104.2016.1148806