# MTHFR gene mutation?



## starfairy (Apr 3, 2003)

Does anybody else have this? Have you learned anything about it? had to do anything special? i have an appointment with a perinatoligist next week & am being reffered for genetic counseling, but am hoping to hear from someone else who has experience....

Thanks!

~Anne-Marie


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## hmpc2 (Jul 1, 2003)

I don't have any personal experience with this, but I was curious and looked it up on a search engine. What I found is the following:

Factor II is one of the major factors in the human clotting pathway. Homocysteine is normally present in low levels in the bloodstream. It is derived from dietary methionine, an amino acid. A gene mutation for the enzyme methylene-tetrahydrofolate reductase (MTHFR), will lead to build up of homocysteine in the bloodstream. This condition, called hyperhomocytseinemia, results in blood clot formation and hardening of the arteries, even in childhood. Nutritional lack of vitamins B6, B12 and folic acid aggravate the problem. Women who have the homozygous form of the MTHFR gene mutation (both of her alleles having the mutation) are more than a two-fold increased risk for a miscarriage. Treatment usually involves a combination of low-dose aspirin plus low molecular weight heparin injections. The therapy is started before pregnancy occurs, and continued four to six weeks after birth. Folic acid supplementation is given to patients with the MTHFR gene mutation.

I don't know if that was what you were looking for, but I just wanted to pass on what I found. ~Heather


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## Abylite (Jan 3, 2003)

Hello! Feel free to e-mail me [email protected]...

I had 2 m/c and got "all" the tests and found out that I have the hetero form of the MTHFR mutation...my homocytene level was checked and it was fine. THe specialist said that this clotting issue affects about 20% of the total population and it's a "good" one to have in the sense that it doesn't cause major issues UNLESS you have other clotting issues like FACTOR V, PT, etc problems.

So I've starting on a baby aspirin and extra (prescription) strenth folic acid. IF and hopefully not...a m/c happens again...then he will do heparin with me. I felt comfortable with this. I've done lots of research on this and I'm not too worried about it. We are in the 2ww right now with alot of fear...but I'm taking it one day at a time. Let me know what you find out....!!!!


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## starfairy (Apr 3, 2003)

Thanks Abylite







I saw a perinatologist today. Wasn't the best visit as he was very late, very scattered & had to leave a lot - a patient in another room had "very bad news" - she very pregnant & I felt bad for her (yet, did not appreciate the Dr telling me repeatedly that if anybody should understand what it is like for her, its me...yeah, I nearly cried thinking about what she must be feeling...)

Dr said that I've had every test possible - & the only thing wrong with me from the bloodwork is the mutation. Risk that clot in the placenta could cause mc..but he does not at all think that was what happened in my cases... says my last later loss & the baby's deformities were just random (dh thinks it was the MRI I got before I knew I was PG). Wants both dh & I to go on antibiotics & for me to go on the mega folic acid, baby aspirin & progesterone (I also have a progesterone deficiency). WHY am I losing all these babies? 8 losses! No explanation? It seems everyone who has this mutation has had losses, what is the explanation?

Oh,well - I'm having lots of other testing (just had a sonohystogram yesterday - HELL!!!!) - wonder if that will clarify anything....

Wishing you all the very best!









Blessings,
Anne-Marie


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