Inherited platelet disorders.
The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the hereditary macrothrombocytopenias, platelet signaling disorders and disorders of platelet coagulant function. The molecular basis of the disorders, the cardinal features of their clinical presentation and best methods to make their diagnosis and the latest information regarding therapy will be presented.
Handin
Robert I
RI
Brigham & Women's Hospital, Hematology Division, 75 Francis Street, Boston, MA 02115-6110, USA. rhandin@partners.org
D001606:Bernard-Soulier Syndrome / Q000473:pathology / Q000503:physiopathology; D001778:Blood Coagulation Disorders / Q000235:genetics; D001791:Blood Platelet Disorders / Q000235:genetics*; D001792:Blood Platelets / Q000378:metabolism / Q000502:physiology; D003594:Cytoplasmic Granules / Q000473:pathology; D006801:Humans; D038981:Receptors, Collagen / Q000172:deficiency; D015398:Signal Transduction; D013915:Thrombasthenia / Q000473:pathology / Q000503:physiopathology; D013921:Thrombocytopenia / Q000235:genetics; D014842:von Willebrand Diseases / Q000473:pathology / Q000503:physiopathology
D038981:Receptors, Collagen