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2016 ; 27
(6
): 519-25
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Inherited thrombocytopenia: novel insights into megakaryocyte maturation,
proplatelet formation and platelet lifespan
#MMPMID27025194
Johnson B
; Fletcher SJ
; Morgan NV
Platelets
2016[Sep]; 27
(6
): 519-25
PMID27025194
show ga
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.