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 presentat...

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Veröffentlicht in:	Hematology 2005, Vol.2005 (1), p.396-402
1. Verfasser:	Handin, Robert I
Format:	Artikel
Sprache:	eng
Schlagworte:	Bernard-Soulier Syndrome - pathology Bernard-Soulier Syndrome - physiopathology Blood Coagulation Disorders - genetics Blood Platelet Disorders - genetics Blood Platelets - metabolism Blood Platelets - physiology Cytoplasmic Granules - pathology Humans Receptors, Collagen - deficiency Signal Transduction Thrombasthenia - pathology Thrombasthenia - physiopathology Thrombocytopenia - genetics von Willebrand Diseases - pathology von Willebrand Diseases - physiopathology
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Beschreibung
Zusammenfassung:	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.
ISSN:	1520-4391 1520-4383
DOI:	10.1182/asheducation-2005.1.396