8/19/2007

MTHFR C677T gene polymorphism

The expensive blood work came back with a positive for Methylene-Tetra-Hydro-Folate-Reductase (MTHFR) with 2 abnormal genes (homozygous C677T). About 10% of the population are homozygous (thermolabile MTHFR) which could mean elevated homocysteine levels. Thankfully, my homocysteine levels were normal (5.1 micromol/L) so I'm not at risk for a clotting disorder. MTHFR could mean impaired folate metabolism.

Homocysteine is a chemical in the blood that is produced when an amino acid (a building block of protein) called methionine is broken down in the body. We all have some homocysteine in our blood. Elevated homocysteine levels (also called hyperhomocysteinemia) may cause irritation of the blood vessels. Elevated levels of homocysteine show an increased risk for (1) hardening of the arteries (atherosclerosis), which could eventually result in a heart attack and/or stroke, and (2) blood clots in the veins, referred to as venous thrombosis. [Varga E, Sturm A, Misita C, Moll S. Homocysteine and MTHFR Mutations Relation to Thrombosis and Coronary Artery Disease. Circulation. 2005;111:e289-e293]

Now, I get confused because there seems to be differences of opinion. However, I am happy with my doctor's recommendation to supplement with a combination pill (FABB tab) that contains 2.5 mg of Folic Acid, B6, and B12. I feel like I should do something because maybe my miscarriage was due to a folic acid deficiency? There are doctors who prescribe nothing, some that prescribe much more Folic Acid then I am getting, and some that also prescribe blood thinner injections.

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