Over the last 100 years the role of platelets in hemostatic events and their production by
megakaryocytes have gradually been defined. Progressively, thrombocytopenia was …

The great advances in the knowledge of inherited thrombocytopenias (ITs) made since the
turn of the century have significantly changed our view of these conditions. To date, ITs …

Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder
characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of …

Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in
NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules …

In the last decade, improvements in genetic testing have revolutionized the molecular
diagnosis of inherited thrombocytopenias (ITs), increasing the spectrum of knowledge of …

Inherited platelet disorders are rare but they can have considerable clinical impacts, and
studies of their causes have advanced understanding of platelet formation and function …

The new techniques of genetic analysis have made it possible to identify many new forms of
inherited thrombocytopenias (IT) and study large series of patients. In recent years, this has …

The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired
alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 mutations …

Since the description of the first case with gray platelet syndrome (GPS) in 1971, this rare
inherited platelet disorder has been the focus of extensive clinical and basic research …

Background The main role of platelets is to control haemostasis when there is a blood
vessel injury in order to minimise blood loss at the injury site. Under normal circumstances …