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  • Title: Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.
    Author: Mustafa NY, Marouf R, Al-Humood S, Al-Fadhli SM, Mojiminiyi O.
    Journal: Acta Haematol; 2010; 123(1):37-42. PubMed ID: 19940469.
    Abstract:
    INTRODUCTION: Patients with thalassemia major often present with a hypercoagulable state, the pathogenesis of which is still not understood. MATERIALS AND METHODS: This study evaluates the risk factors for hypercoagulability in 50 beta-thalassemia major patients and 50 healthy controls. Fasting total homocysteine, protein C (PC), protein S (PS), antithrombin (AT), activated protein C resistance (APCR) and lupus anticoagulant (LA) were assessed. MTHFR C677T mutation was determined. RESULTS: Significant reductions in PC, PS and AT were noted in patients. Only 4% of the patients had hyperhomocysteinemia. Thirty-two percent of the patients were heterozygous and 4% were homozygous for MTHFR C677T mutation. CONCLUSION: The natural coagulation inhibitors PC, PS and AT were significantly reduced in patients with beta-thalassemia major and were thus important risk factors for the hypercoagulable state, but hyperhomocysteinemia and MTHFR mutation do not seem to be significant risk factors for thromboembolic events.
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