Genetic Disorders Expert Forum
MTHFR A1298C
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MTHFR A1298C

Hi, I am 33 years old and have had 3 miscarriages in the last 2 years.  After numerous tests, one came back positive.  I am positive for the Heterozygous A1298C mutation of MTHFR.  What does this mean for me having children?  I have a perfectly healthy 13 year old, and had no problems with my pregnancy with her.

All of the research on line talks about the C677T mutation or a combo of the two.  I want info on just the Heterozygous A1298C and what I need to do?  I am so worried, and don't know where to go for help!
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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 MTHFR gene is important in the metabolism of homocysteine, an important amino acid.

You mentioned that you are heterozygous for A1298C.  This means that you have only one copy of this gene mutation and your other copy of your MTHFR gene is normal.  People who have two copies of A1298C are known as homozygous and they have greater decreases in MTHFR activity compared to those with only one copy of the mutation (heterozygous).  

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.  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.  

You may wish to consider talking with a genetic counselor about your test results.   MTHFR is inherited and has health implications beyond miscarriage that you may wish to learn about for yourself and your family. Genetic counselors can help patients and families make decisions about whether a genetic test is indicated through review of family medical history and discussion of the benefits and limitations of testing.  Genetic counselors can also help someone interpret test results that another healthcare provider may have ordered.  Results from genetic tests are complex and often need to be interpreted in order to understand how they may impact a person’s health.

A genetic counselor can be found through the National Society of Genetic Counselors and through companies like mine, DNA Direct, where phone consultations with board-certified genetic counselors are available.    Best wishes to you.  
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