Hi. I recently found from a Hemotalogist I have MTHFR A12A8C heterozygous. What does this really mean and what are treatments? I know only that I cant metabolize folic acid as I should. I also have Portal vein Thrombosis, as result of having my spleen removed..or possible cause of spleen being enlarged. But I had so many test over a year and half before surgery I find it hard to beleive it was mised pre surgery. I am on Lovenox for the PVT. So tell me more about me please.
I am only 27...this is all alot to swallow.
I had a recent post from another person regarding the MTHFR mutation. There are two mutations that are most common in the MTHFR, and yours is the most common one. You also have two copies of the mutation which is what the hetrozygous means. Homozygous is a single copy.
Here is a answer I had posted a few days back to the other person, and while it isn't specifically regarding your question, it should answer what you are asking.
If you have any other questions after reading this, please message me directly! The answer I posted here is specific to the other mutation (C677T) but the treatments and problems are the same regardless of the type of mutation. I know that you specified that you are being treated for it, which is actually very good, since many others do not get treatment for it.
I am 37 and have had a miscarriage this past June, a chemical pregnancy last month (which is a loss before end of cycle) and I have a son who has Down syndrome. I too was recently diagnosed with MTHFR same variant as you, C677T. This genetic mutation or variant is one of the two common MTHFR variants. Two common variations of the MTHFR gene are C677T and A1298C but it is important to note that the variant we have is the more problematic of the two with respect to health issues. Both of the mutations are known to be responsible for miscarriages and also for genetic abnormalities in pregnancies such as Down syndrome and Spina Bifida as examples. The reason why your doctor may not be as concerned is because you have a single mutation or what they call being Heterozygous. Which means only one allele instead of both was mutated. When both copies are mutated it's called Homozygous, and this is sometimes more problematic. There are a few schools of thought on the issue. One suggests that this MTHFR isn't even proven to be a problem. (Not enough proven scientific study to confirm or deny on the subject of miscarriage) Then there is a school of thought that says, yes - MTHFR is proven to be responsible for miscarriage. The third school of thought is that it is possible that it causes miscarriage but only if you have the Homozygous version.
There are many doctors out there who practise treatment no matter which form of MTHFR you have. There are doctors who don't practice any treatment at all.
My personal understanding is if your doctor doesn't know anything or much about the mutation, they will likely follow the school of thought that there is no link or relation to miscarriage. I have two doctors and the one (my family doctor) admittedly knows nothing about the mutation much less genetics as a whole topic. My genetics department is on the fence as to whether or not it is problematic for pregnancy (I had to literally beg them to test me for the mutation), and my OBGYN is completely studied on the topic and follows treatment regimens.
The other important fact is to know that different studies out there tell you different statistics which is why I believe some doctors feel so differently on the subject. My local genetics department tells me that there is a 33% (1 in 3) chance that someone could have the mutation (any variant). Some medical journals say for this specific mutation (C667T) is around 17%.
There are things you can do if your physician isn't willing to "medically treat" you. Because having the mutation means an inability to efficiently metabolize Folic acid and vitamin B9, you need to take more then the average person. Instead of 0.4mg daily during and before pregnancy, people with the variant need to take at least 4mg daily. Also, being that homocysteine levels would normally be elevated, taking higher levels of B6 & B12 (or a B complex) is part of the "treatment". Since the variant is often responsible for blood clotting or thrombosis, many doctors treat with Heparin or Lovenox which are blood thinners, a low dose (81mg) baby aspirin can be taken if your doctor prefers. I also just read (from another one of my posts) someone mentioning asking the doctor for "5-MTHF, or 5-methyl-tetra-hydra-folate, rather than just a folic acid supplement, if you have MTHFR deficiency, for better absorption". These are just my own treatments that I had started since my loss this June.
You can certainly get a second opinion, because in this genetic situation there are definitely a few schools of thought. It just depends on what you believe and for myself personally, I would rather cover all my bases to try and have a good pregnancy outcome. I have seen the benefits of two people I know directly who were treated after several miscarriages who then went on to have healthy full term pregnancies.
I hope this helps and if you have any questions, please feel free to message me directly. One of my girlfriends (here also on MH) is living proof that treatment works. After 3 miscarriages back to back, she was tested and treated. She is currently more then half of her pregnancy along. I am sure she would definitely pass on her knowledge to you. Her user name is K10road. I am sure either one of us could help you if you have more questions.
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
Thank you so much. I am taking Neevo( rx prenatal that contains L-methylfolate) which is supposed to be more bioavailble than folic acid and therefore able for me to metabolize. I wanted to share that as it may help others. I am not pregnant,but its a good vitamin for anyone especially people with MTHFR.
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