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  • Title: Glanzmann's thrombasthenia: report of a case and review of the literature.
    Author: Sebastiano C, Bromberg M, Breen K, Hurford MT.
    Journal: Int J Clin Exp Pathol; 2010 Apr 25; 3(4):443-7. PubMed ID: 20490335.
    Abstract:
    Glanzmann's thrombasthenia is a rare congenital bleeding disorder. Patients usually present with mucocutaneous bleeding and excessive bleeding associated with trauma and/or surgery. Patients have an increased bleeding time and a normal platelet count with abnormal platelet function assays. Genetically, Glanzmann's thrombasthenia is associated with mutations in the genes which encode for glycoproteins, GPIIb or GPIIIa. Defects in these genes lead to a lack of or highly reduced expression of the glycoprotein complex (GPIIb/GPIIIa), resulting in platelet dysfunction. Bleeding is managed by platelet transfusions. Bone marrow transplants have been used successfully in rare cases. With proper supportive care Glanzmann's thrombasthenia has a very good prognosis.
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