Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait

Affiliations

01 January 2010

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doi: 10.1159/000260069


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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