Genetic Disorders Expert Forum
A1298C Mutation two Copies
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A1298C Mutation two Copies

Hi

I just found out after numerous miscarriages that I have A1298C mutation two copies.  My OB/GYN is at a loss and is quite unsure of where to go from here.  From all the reading I've done online.  I can't help but think this is the reason for all or most of the miscarriages.  Can you help me with suggestions on the vitamins or medications I should be taking to try and hold a pregnancy for full term?  Is this serious?

Thanks

Cindysue1
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Coping with repeat pregnancy loss is one of the most difficult experiences a person must cope with both physically and emotionally.  When a cause or treatment is not clear it can be even more frustrating. I hope this information is helpful to you in discovering the next best steps.

As I am sure you found out in doing your own research, the A1298C gene variant is found in the MTHFR (methylene-tetra-hydrofolate-reductase) gene. The MTFR gene is important in the metabolism of homocysteine, an important amino acid.

Variants in the MTHFR gene, including A1298C, can cause elevated homocysteine levels and has been implicated in many health issues including repeat miscarriage. Unfortunately the research to date has not presented a clear picture on how strong the association with A1298C and miscarriage is, or what to do about it. I am sure this is why your physician feels frustrated, too.  An important next step if it has not been done already would be to talk with your doctor about measuring your plasma homocysteine with a simple a blood test.  

Enough research has been conducted, however, to know that women such as yourself may benefit from a variety of treatments. The primary recommendation is to take folic acid supplements. Additional treatments might include taking other forms of B vitamins, baby aspirin, or low dose blood thinners. Other treatments may be identified as well. We recommend that you seek out a specialist in your area that is familiar with recurrent miscarriage and MTHFR to help you find a personalized treatment plan and the right dose of folic acid for your situation. Usually a maternal fetal medicine specialist has the right expertise to assist you in this situation. Your OB/GYN may have a recommendation, or the Society for Maternal Fetal Medicine website has a physician finder that can help you locate someone in your area.

You may wish to consider visiting a genetic counselor as well. MTFHR is inherited and has health implications beyond miscarriage that you may wish to learn about for yourself and your family. A genetic counselor can be found through the National Society of Genetic Counselors.  
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