Inherited abnormalities of the platelet membrane and secretory granules.
Platelet stimulus-activation-contraction-secretion coupling is linked to fundamental modifications in the biochemistry and ultrastructure of the platelet surface and the membranes enclosing storage organelles. It is not surprising, therefore, that membrane defects are common in platelets from patients with inherited hemorrhagic disorders caused by platelet dysfunction. In fact, it might be stated that all inherited disorders of platelet function are related directly or indirectly to abnormalities of membranes. The current review discusses the state of knowledge on inherited platelet membrane defects of the cell surface and storage organelles.
D001606:Bernard-Soulier Syndrome / Q000235:genetics; D001791:Blood Platelet Disorders / Q000235:genetics*; D001792:Blood Platelets / Q000166:cytology; D002462:Cell Membrane / Q000502:physiology / Q000648:ultrastructure; D002609:Chediak-Higashi Syndrome / Q000235:genetics / Q000503:physiopathology; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D006801:Humans; D010981:Platelet Storage Pool Deficiency / Q000503:physiopathology; D013915:Thrombasthenia / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D014923:Wiskott-Aldrich Syndrome / Q000378:metabolism / Q000503:physiopathology