Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence.

Animals Blood Platelets / metabolism Case-Control Studies Female Follow-Up Studies Humans Integrin alpha2beta1 / metabolism Integrin beta3 / metabolism Male Mice Mutation N-Acetylneuraminic Acid / chemistry Platelet Count Polysaccharides / metabolism Prognosis Protein Processing, Post-Translational Thrombocytopenia / etiology von Willebrand Disease, Type 2 / complications von Willebrand Factor / genetics

Journal

Haematologica

ISSN: 1592-8721

Titre abrégé: Haematologica

Pays: Italy

ID NLM: 0417435

Informations de publication

Date de publication:
12 2019

Historique:

received: 13 09 2018

accepted: 26 02 2019

pubmed: 2 3 2019

medline: 5 8 2020

entrez: 2 3 2019

Statut: ppublish

Résumé

Patients with type 2B von Willebrand disease (vWD) (caused by gain-of-function mutations in the gene coding for von Willebrand factor) display bleeding to a variable extent and, in some cases, thrombocytopenia. There are several underlying causes of thrombocytopenia in type 2B vWD. It was recently suggested that desialylation-mediated platelet clearance leads to thrombocytopenia in this disease. However, this hypothesis has not been tested

Identifiants

DOI: 10.3324/haematol.2018.206250 PMID: 30819911 PMC: PMC6959185

pubmed: 30819911

pii: haematol.2018.206250

doi: 10.3324/haematol.2018.206250

pmc: PMC6959185

doi:

Substances chimiques

Integrin alpha2beta1 0

Integrin beta3 0

Polysaccharides 0

von Willebrand Factor 0

N-Acetylneuraminic Acid GZP2782OP0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

2493-2500

Informations de copyright

Références

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