Multiple platelet signaling and synthetic pathways are necessary for the optimal propagation and stabilization of the forming thrombus. Mutations in platelet receptors, signaling proteins, and synthetic pathways have been identified in patients with granule release and aspirin-like defects. Patients with…
Platelets contain two major types of granules, dense and α-granules. Granule contents include numerous factors essential to the normal formation and stabilization of a hemostatic plug. Either a decrease in the number of platelet granules or a defect in their…
Glanzmann thrombasthenia (GT) is an autosomal-recessive platelet function disorder in which platelet appearance and platelet number are unaffected. Patients with GT present with platelet-type bleeding, which may be severe, such as purpura, epistaxis, oral mucosal bleeding, menorrhagia, or gastrointestinal bleeding.…
GPIb-IX is the major platelet receptor for von Willebrand factor (VWF). Normal GPIb-IX function is essential both for normal megakaryocyte/platelet maturation and for normal platelet function, most prominently adhesion. Mutations in GPIb-IX result in a number of different syndromes. Clinical…
Introduction Platelet dysfunction and thrombocytopenia result from a variety of inherited and acquired disorders. When a patient with mucocutaneous bleeding is first evaluated, the list of differential diagnoses is usually extensive. Elements of the medical history, the physical examination, and…