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Defective acid hydrolase secretion in RUNX1 haplodeficiency: Evidence for a global platelet secretory defect

RUNX1 haplodeficiency is associated with thrombocytopenia, platelet dysfunction and a predisposition to acute leukaemia. Platelets possess three distinct types of granules and secretory processes involving dense granules (DG), α‐granules and… Click to show full abstract

RUNX1 haplodeficiency is associated with thrombocytopenia, platelet dysfunction and a predisposition to acute leukaemia. Platelets possess three distinct types of granules and secretory processes involving dense granules (DG), α‐granules and vesicles or lysosomes containing acid hydrolases (AH). Dense granules and granule deficiencies have been reported in patients with RUNX1 mutations. Little is known regarding the secretion from AH‐containing vesicles.

Keywords: runx1 haplodeficiency; secretory; runx1; acid; platelet

Journal Title: Haemophilia
Year Published: 2017

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