Medical Question: MTHFR Gene mutation?

[Tree House Academy]

Has anyone ever been diagnosed with this? I went to the doctor seeking BCPs and he asked my family history. When I told him that my great grandfather and my grandmother both had strokes (Great-grandfather was 29 when he had his) and grandmother died from a blood clot that went to her heart, he decided to do a Thrombosis panel to check for any pre-disposition to clotting abnormalities, etc. before allowing me the BCPs.

 

I went along with it and yesterday I got the results. I have "2 of the same gene mutation for MTHFR." I do not know what the numbers are (A or C or one of each that is for anyone who knows about this) but my homocystine levels were totally normal.

 

I also read that a lot of times, people who have this find out because of complications with getting pregnant, miscarriages, still births, and so on. I have NEVER had a problem getting pregnant, never had a miscarriage, never any issues with my babies or myself during pregnancy. That really made me...wonder.

 

Can anyone shed any light on this? Who should I see for follow-up? My OB/GYN had no idea what it meant and admitted as much. :(

[Mommyof4ks]

I don't know how it relates to your specific situation. The only time I have heard about it is in relation to pediatric cancer and chemo sensitivities (it is not associated with ped cancer, just the reactions to chemo as far as I understand). There are many possible mutations of the same genes though so it may be that the 'experts' don't know much yet. The human genome project uncovered many abnormalities, but so far there are many that the docs/researchers are not sure what they mean yet. You might try locating the email addresses or phone numbers of docs at research hospitals or that are related to any research that you find and just ask them. Pubmed is a great place to start looking for info/names. Keep asking until someone can give you some kind of answer.

 

As far as who to follow up with, hmm...hopefully someone else will come along with info on that.

 

Here is a link that I was given:

http://ghr.nlm.nih.gov/gene=mthfr

Edited January 27, 2009 by dwkilburn1

[StephinAL]

I have one (the C). From what I understand, it is the C one that can cause blood clotting. I have had 4 normal pregnancies, taken BCP and haven't had any clotting issues. My grandmother had multiple strokes and my mom and all of her siblings had early heart disease. My GYN wants to put me on a low dose asprin. I am currently taking prescription Folic Acid because supposedly, people don't process it normally with this. I had a medical condition that could be caused by low folic acid that led to the blood test for me. My homocystine levels are normal too. Actually they are below normal because of the Metanx (folic acid) I take.

 

My GYN said that my daughters would have to be tested before getting pregnant or taking BCP.

Edited January 27, 2009 by StephinAL

[Carol in Cal.]

I remember hearing that BCP increase the likelihood of strokes, especially in women who have a predisposition for them or who are smokers or over 40.

 

Have you researched whether you should maybe not use BCP?

[texascamps]

My experience with this is like those above. I had two miscarriages, one at 15 weeks and one at 13 weeks. After this, they did the gene testing. I've had 3 successful births, without medication but my newest and my last, has been under a low dose aspirin daily. I take regualar prenatal vitamins. I think a low dose daily aspirin is probably in my future.

[Jen500]

I went along with it and yesterday I got the results. I have "2 of the same gene mutation for MTHFR." I do not know what the numbers are (A or C or one of each that is for anyone who knows about this) but my homocystine levels were totally normal.

:(

 

Ask your Dr. about consulting a genetics counselor. They can answer questions about your results.