Inherited thrombocytopenias

Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B

“…Giant platelets have also been reported in the Montreal platelet syndrome first considered to be a platelet disease, 30 but now shown to be VWD2B-associated with the presence of platelet agglutinates. 15 Giant granules are rare but well described in the ParisTrousseau syndrome 31 given by mutations of the Fli gene, but the mechanism responsible for their formation is unknown. Our results implied that enhanced binding of endogenous VWF to GPIb␣ observed in patients with VWD2B can interfere with the fine regulation of megakaryocytopoiesis.…”

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

“…Inherited thrombocytopenias are a group of disorders associated with bleeding of varying severity, depending both on the reduction in platelet count and any additional platelet dysfunction (1). The normal human platelet count ranges widely (150 × 10 9 to 400 × 10 9 platelets/l) and is maintained within a narrow range for each individual.…”

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

“…1 MYH9-related disease (MYH9-RD) is one of the less rare forms of inherited thrombocytopenia. 2 It derives from mutations of the gene MYH9 for the heavy chain of nonmuscle myosin IIA and is characterized by large platelets and thrombocytopenia, both of which are congenital.…”