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Genetics  (Expert Forum)
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heterozygouus MTHFR
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.

heterozygouus MTHFR

by Lena78, Nov 15, 2007 11:09AM
I have had two pregnancies and all miscarried at early term. First pregnancy was natural and second one – IVF. Just recently I found out that I have heterozygous MTHFR C677T mutation and low Protein C level (64). I started a new IVF cycle this week and my dr. said that I’m going to have to take baby aspirin daily after egg retrieval because I have Protein C deficiency. He didn’t tell me anything about treatment for MTHFR. Is there anything else I should intake? Are these two genes associated with each other?  Does it cause my previous losses?    

Thank you

by Lisa Kessler, MS, CGC, Nov 19, 2007 02:13PM
To: Lena78
I am very sorry for your losses.  Miscarriage can be difficult emotionally and physically.  Protein C deficiency is associated with an increased for pregnancy loss.  Variants in the MTHFR (methylene-tetra-hydrofolate-reductase) gene are found in all populations with varying frequency, but are not uncommon. You mentioned that you have one copy of the C677T mutation.  The MTHFR gene, as you have read, is important in the metabolism of the amino acid homocysteine. Variants in the gene are inherited.  

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.  

There are just as many studies that state MTHFR 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.

Having more than one inherited thrombophilia can increase the risks for pregnancy loss.  I hope that this information is helpful for you.  
Member Comments (4)

by Praspowt, Nov 19, 2007 10:42AM
To: Lena78
heterozygous MTHFR C677T and low protein C level are the risk factor to having clot in your blood vessels. These two factors may lead to recurrent miscarriages by having clot in blood vessels that bring nutrient and oxygen to the baby, but  the idea has not been aprrove universally.
To reduce effect of the MTHFR is to have a folic acid  to alleviate the action of the mutation, but in your country, food are usuaaly fortified with folate (Form of folic acid), so this may not necessary to take more folate, folate can also be found in many frtified milk in the market.
To take aspirin may counteract with the effect of low protein C level.
Is this help?
http://clinicalgeentics.blogspot.com

by Praspowt, Nov 19, 2007 10:49AM
http://clinicalgenetics.blogspot.com

by Lena78, Nov 20, 2007 08:27AM
Thank you guys for your responses! I forgot to mention that my homocysteine level was normal. As I understood this is good thing. I'm taking prenatal vitamins now. I hope it will help me to get pregnant.
Thanks for your support!
Lena
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