Gray platelet syndrome

Abstract

Gray platelet syndrome (GPS) is a rare congenital condition mostly inherited as an autosomal recessive disorder of platelet function, resulting in bleeding diathesis. Its name originates from the characteristic gray color of platelets in Wright-Giemsa stained blood smears. Decreased accumulation of a granules is identified by electron microscopy. A significant breakthrough on identifying mutations of two genes, NBEAL2 (neurobeaching-like 2) and GFI1B (growth factor independent1B), in GPS pathogenesis was recently reported. Patients with GPS present thrombocytopenia, a mild to severe propensity for bleeding, and they are prone to myelofibrosis and splenomegaly. Diagnosis of GPS is difficult and includes other, more frequent congenital platelet dysfunctions and acquired thrombocytopathies. This article presents the pathogenesis, with a molecular background,and the diagnostic criteria of gray platelet syndrome.