Abstract

Congenital and acquired thrombophilia are associated with an increased risk of pregnancy-associated venous thrombosis (VT). Several genetic mechanisms have been investigated for their possible relationship with VT. Methyl tetrahydrofolate reductase gene polymorphisms are frequently in the MTHFR gene, which leads to a C to T change at position 677, has been suggested to alter the thrombohemostasis process and thrombophilia. Also, it has been found that MTHFR C1298C or MTHFR A1298C have no effect on the risk of VT. Herein, we describe deep VT (DVT) secondary to heterozygous MTHFR A1298C mutation in pregnant woman.