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Mutation

A revision of 2914 active medical records from patients in an ambulatory solo-practice of community-based mixed hematology and medical oncology physician was done. 179 patients have been identified with hypercoagulable states (thrombophilia) for a prevalence of 6.14%. A random cross-sectional selection of 10% of the 179 patients was done for total of 18 cases. MTHFR mutations were identified in 7 out of 18 cases for a prevalence of 39.89% of which 4 (57.14%) were homozygous for 2 copies of C677T, 2 (28.57%) homozygous for 2 copies of A1298C, and 1 (14.29%) heterozygous for 1 copy of C677T and 1 copy of A1298C. Most of them are women. Their age have a range from 17 to 48 with a mean of 39. All cases of MTHFR mutations had normal serum homocysteine levels. The thrombotic events recorded in them were recurrent miscarriage syndrome (3/7), deep venous thrombosis (3/7), and transient ischemic attack (1/7). Only two cases had MTHFR mutation as the only hypercoagulable state and five cases had other coexistence conditions such as anti-thrombin III deficiency, protein C and S deficiencies, Lupus Anticoagulant, and factor V Leiden mutation. Raul H. Morales-Borges, Prevalence of MTHFR C677T and A1298C Mutations and Thrombophilia in Puerto Rico
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Last date updated on June, 2014

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