Compound heterozygosity for the C677T and A1298C mutations of the MTHFR gene in a case of hyperhomocysteinemia with recurrent deep thrombosis at young age.

Abstract excerpt

We report a case of a young woman with an extensive, recurrent deep vein thrombosis (DVT) diagnosed by CT scan and duplex ultrasound examination. All blood investigations for etiology of recurrent DVT were normal except for serum homocysteine level, which was mildly increased. No other thrombophilic factors could be found. The three main causes of hyperhomocysteinemia are genetic defects, nutritional deficiencies...

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