Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia

Thrombosis and Haemostasis
P NorisC L Balduini

Abstract

We have recently studied a case series of 46 unrelated patients with inherited thrombocytopenias and identified 18 cases that did not fit any known platelet disorder. In two unrelated families, a mild thrombocytopenia with normal platelet size was transmitted in an autosomal dominant fashion. Bleeding time was prolonged in 5 investigated patients. In all of them, flow cytometry and SDS-PAGE of platelet glycoproteins (GP) showed a reduced content of GPIa, a subunit of the GPIa-IIa complex (also known as integrin alpha 2 beta(1)) that is a major collagen receptor on platelets. All other membrane GPs were within the normal range. GPIa deficiency was associated with severely reduced in vitro platelet adhesion to molecules known to interact selectively with GPIa. In vitro platelet aggregation was normal in all subjects, except for a suboptimal platelet response to fibrillar collagen in two patients. A mild defect of alpha-granules was observed in all affected subjects. No mutation was identified in the genes encoding for GPIa or GPIIa. Since no other similar cases have been reported in the literature, we suggest that an autosomal dominant thrombocytopenia associated with GPIa deficiency and alpha-granule defect represents a new form...Continue Reading

Citations

Feb 28, 2017·American Journal of Hematology·Daniela De RoccoPatrizia Noris
Aug 4, 2016·Hämostaseologie·Paolo GreseleLoredana Bury
Dec 21, 2018·Expert Review of Hematology·Paolo GreseleEmanuela Falcinelli
Feb 23, 2019·NPJ Genomic Medicine·Tarek OwaidahNada Al Tassan
Oct 24, 2018·British Journal of Haematology·Michela FaleschiniPatrizia Noris
Aug 7, 2009·British Journal of Haematology·Andrew H WeiShaun P Jackson
Aug 15, 2021·Hämostaseologie·Carlo ZaninettiAndreas Greinacher

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