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compound Heterozygous MTHFR
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compound Heterozygous MTHFR

I was recently diagnoised with MTHFR I got it from both parents and they say i have the A one.  I'm not sure what the compound is and my doctor isn't familiar with it and says she doesn't believe i need to take the blood thinning shots when i become pregnant but from what i read i do.  can you explain this to me a little?

Angela


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Angela,
I am a little confused because you say you got the gene from both parents. In my mind that would mean you had two copies, which would make you homozygous. If you were indeed homozygous, I will hope your OB would see how much of a problem this can potentially be. The are three different levels of MTHFR. Heterozygous means you have one copy of the MTHFR gene. (This is the one that 30%-40% of the population have. Lots of woman have perfectly normal pregnancy without treatment with this mutation) Compound Heterozygous which means you have one copy of each gene. One A one and one C one. Finally there is Homozygous which means you have two copies of the same MTHFR gene mutation. This mutation usually poses the most threat.

Ask your Dr. to tell you which one you are. If you are homozygous of compound hetero ask your Dr. about getting an order to check your homocysteine level. This level dictates how big of a problem MTHFR is for you. Also if indeed you are compound of homo ask for a referral to a perinatologist. They are specially trained to treat woman with MTHFR and other high risk issues.

I personally have compound heterozygous MTHFR with normal homocysteine. I had my daughter 13 weeks premature due to an abruption. (A clot formed behind the placenta) I had no clue I had this mutation we I got pregnant. My daughter died eight days later in the NICU. My Dr. believes just a baby aspirin and a B vitamin complex during my next pregnany will do the trick.

Best wishes.
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Angela & Mcbride

I am diagnosed with two mutations of MTHFR -C677T.  Mcbride you say that this is the one most threating do you know why?
I just recently had a m/c after going thru my first IVF.  After being diagnosed I went to a Hemotoligist & was told I am also positive for PAI-1.  She advised me to take baby aspirin & once pregnant to take the love nox.
My Homocysteine level is normal.  I took it upon myself to go to the hemotoligist & was not advised by anyone. I am glad I did because she told me I made the right decision otherwise I would not know about the lovenox.  I am also going to see a genetic counseler next friday.

What is a perinatolgist? Should I see him too?
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Since this journal is from last year, I just wanted to give an update incase anyone googles this.  I am currently pregnant now 6 months with TWIN BOYS. I am on extra folbic acid. I was temp on lovenox but perintolgist removed me from it at 10 weeks.  
I pray that anyone else that has these conditions will go see there perintolgist.
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