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Article

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

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2017

Rao A K, Poncz M

Abstract excerpt

BACKGROUND: 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...

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Source

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Identifiers

PMID: 28662545
DOI: 10.1111/hae.13280
PMCID: PMC5623153

Genes

RUNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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