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Glanzmann thrombasthenia

Pronunciation: glahntz'mahn

Definition: a hemorrhagic diathesis characterized by normal or prolonged bleeding time, normal coagulation time, defective clot retraction, and normal platelet count, but morphologic or functional abnormality of platelets; several different kinds of platelet abnormalities have been described; caused by defect in platelet membrane glycoprotein IIb-IIIa complex; autosomal recessive inheritance, caused by mutation in the platelet-membrane glycoprotein IIb-IIIa complex gene (ITGA2B) on chromosome 17.

Synonym(s): constitutional thrombopathy, Glanzmann disease, hereditary hemorrhagic thrombasthenia

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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