Genetic Disorders Expert Forum
MTHFR
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MTHFR

Hi, Just yesterday I found out I have two mutations in my MTHFR gene (this is new to me, so I don't exactly know how to word things yet).  I have a two year old very healthy son, but lost a baby before him and two after so my Dr. had all the normal lab work done and this is the only thing that came back abnormal.  After reading online, I realized that I have to find out which type I have and I called my Dr. this a.m. to ask, haven't heard back yet.  But my main question right now is that I have four sisters (same parents), what is the chances of them having these mutations too?  I am the only one that has tried to have kids yet so they haven't had any miscarriages or anything.  And my other question is that it looks like the only thing I can do is to up my folic acid, B6, and B12 (when I'm trying to get pregnant and throughout prenancy) along with my prenatal I take everyday whether pregnant or not.  
Thanks,
Amanda
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264002_tn?1193282555
Dear Amanda,

You are not alone. Variants in the MTHFR (methylene-tetra-hydrofolate-reductase) gene are found in all populations with varying frequency, but are not uncommon.

The MTHFR gene, as you have read, is important in the metabolism of the amino acid homocysteine. Variants in the gene are inherited. You indicated that you have two copies of an MTHFR variant. This means that you got one copy from your mother, and one copy from your father. You and your siblings share the same mom and dad, so this means that each of them has a 25% chance to have no MTHFR variants, a 50% chance of having at least one, and a 25% chance of having two variants like yourself.

What to do for women with MTHFR mutations who are trying to get pregnant or who are pregnant is not well established. The one universal recommendation is to take folic acid supplements. How much should be established between you and your doctor. Depending on the person’s medical and pregnancy history, other treatments such as taking other forms of B vitamins, baby aspirin, or low dose blood thinners have been reported.  

You may wish to consider visiting a genetic counselor as well to learn more about MTFHR, how it is inherited, and how to discuss the pregnancy and other health implications with your family. DNA Direct can offer these services online to you and your family, or a genetic counselor can be found through the National Society of Genetic Counselors.
8 Comments
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209371_tn?1315950540
Thank you so much for your time and for explaining this to me.  It's really starting to make more sense, and I'll pass the info. onto my sisters.  My Dr. is going to set an appt. up for me to talk to a pregnancy specialist. But I'm interested in looking up DNA Direct too.  Thank you!  Amanda
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209371_tn?1315950540
Hi,
After doing more research on this, I do have a few more questions.  I did hear back from my Dr. and he said that I have one copy A2198c, but when he first told me about all of this, he told me that I have two mutations, both bad, one severe and one not so bad.  Does this make sense (I don't think so)? And I think that my parents, sisters and son should be tested because of the normal (not pregnancy) health concerns connected with this gene mutation - Corinary Artery Disease, Stroke, Diabetes (two of my sisters are hypoglycemic).  And by what I've read all of us affected should be taking folic acid everyday.  What do you think?  Am I over thinking this?
Thanks,
Amanda
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264002_tn?1193282555
Dear Amanda,
I recommend you request a copy of your report from your doctor to read for yourself and to keep a copy for your medical records. You can also provide a copy to your family if you want so they know what to look for.  Once you have the report in hand, specific risks to carry the same mutation(s) for your family can be determined.
There are two mutations that commonly occur in the MTHFR gene. One is called C677T and is typically thought of as the "bad" mutation, and the other A1298C, is thought of as "less bad." The term "bad" is not very descriptive, however, in that both of these mutations have been studied quite a bit with mixed results. There are just as many studies that state these mutations are associated with a variety of problems as studies who find no associations at all. It is very confusing for patients and healthcare providers. What is known for sure is that these mutations can impact your homocysteine level in a negative way. Taking folic acid may help stabilize the homocysteine. Having "normal" levels of homocysteine is important for you health. I would suggest that you discuss testing your homocysteine levels as a next step with your healthcare provider.
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237300_tn?1231458318
I was also just told I have heterozygous MTHFR.  My RE says I have 2 gene mutations.  It is all very confusing to me too...lots of biology when you read.  My doctor put me on Folbic along with my prenatals.  Right now my homocysteine levels are good...but he said once I get pregnant he would like them to monitor them.  I will probably also take an aspirin just to be on the safe side.  I had a m/c in June and my dh and I are trying for the first time this month.  Good luck to you..I'm thankful you asked these questions as it also helps me understand!  Good luck to you!
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264002_tn?1193282555
Genetic terminology is very confusing. When a person has two different mutations they are called "compound heterozygotes". A single mutation is called "heterozygote", and two of the same mutation is called "homozygous."
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209371_tn?1315950540
Hi,
It's an awful thing to say, but it's nice to have somebody "along for the ride" with me!  This is SO CONFUSING! I have all these people that know that I had all the tests done to see why I keep miscarrying and they're all like "let me know what you find out" and it's not that easy! I have found a few good websites one is from a Dr. Beers http://health.groups.yahoo.com/immunologysupport/message/75050 he breaks down the different types of these mutations and explains what pregnancy things can go wrong and also nonpregnancy things that we need to be careful of now (coronary artery disease and stroke) and also explains different medicines that he puts his patients on pregnant and not pregnant.  I am starting to be able to explain it to people better, but it's just way confusing and my Dr. admitted when he told me about my mutated genes that this is pretty much over his head.  I'm glad your Dr.'s being proactive and has you on Folbic (I haven't heard of that one, what's in it?).  My Dr. wants me to talk to a specialist before they take any action.  They haven't checked my homocysteine levels either.  I'm going to try to call him again today, he's hard to get a hold of. We live in a very rural area and we're limited on Dr's, mainly because of the malpractice insurance they have to carry here. So in our county we have my Dr.'s office with two Dr's and another office pretty much beside him with two Dr.'s but they're new and I haven't heard good things about them.
I saw that you m/c in June, that's when I had my third one.
Good Luck!!! to you, I hope I hear from you again!
Amanda
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209371_tn?1315950540
Thank you again for your quick and helpful answers.  I am going to call my Dr. and ask for both a copy and my homocysteine levels to be checked and an appt. with a specialist  because I think that's what my Dr.'s waiting on since he doesn't know much at all about this.  Thanks again and again!
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