Abstract
This chapter describes inherited platelet disorders linked to defects in the major platelet adhesion receptors, GPIb/IX/V and αIIbβ3. Bernard–Soulier syndrome is caused by abnormalities of the GPIb/IX/V complex, characterized by thrombocytopenia, giant platelets, prolonged bleeding time, and ristocetin-induced platelet agglutination. Glanzmann thrombasthenia is the result of a quantitative and/or qualitative defect in integrin αIIbβ3, characterized by prolonged bleeding time and absent platelet aggregation in response to multiple physiological agonists, but with normal platelet count and morphology.
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