MTHR Help

danka · 03-23-2009, 01:54 PM

I just got diagnosed with MTHR......my labs say I'm compond heterozygous for the C677T and the A1298C mutation. Can anyone explain this to me? I've read that some MTHR are harder to treat than others? How do you know? I am currently taking prenatal vitamins, folgard, and baby aspirins, going to acupuncure and taking herbs. I will be doing my 3rd cycle in June when at that time they will put me on heparin or lovenox. My RE explained it to me but am still a but confused, any help would be great......

forevermyheart · 03-24-2009, 05:38 AM

Hello Danka!

I also tested positive for the MTHFR mutation and did some research on it as it is all very confusing. Here is some information from another site that really helped me out.

MTHFR mutations come in two forms: A1298C and C677T. If you have one copy of one mutation, you are "heterozygous for A1298C" or "heterozygous for C677T", depending on which one you have. If you have one of each, you are "compound heterozygous for MTHFR mutations". If you have two copies of one mutation, you are "homozygous for A1298C" or "homozygous for C677T". According to Dr. Beer (a world-leading reproductive immunologist you'll read a lot about on this board), this is the order of severity of the different mutations:

1.) most significant = homozygous for C677T
2.) next most significant = compound heterozygous
5.) least significant = heterozygous for A1298C

I know that "homozygous for A1298C" and "heterozygous for C677T" are numbers 4 and 5 in terms of significance, but I can't remember which order...

These mutations are associated with blood clotting, and a tendancy for your blood to clot up in the teeniest, tiniest blood vessels in your body. And guess where those are... the uterus. So, YES, that could be the reason for your two miscarriages (I'm so sorry to hear about them.) But, if you take the baby aspirin and Folgard, and *possibly* Lovenox (low molecular weight heparin) you are NOT at risk for additional miscarriages, any more than the average woman (remember, first-trimester m/c's can be caused by a variety for factors unrelated to the mother.) If possible, I highly recommend seeking out a consultation with a reproductive immunologist to clarify whether other tests are needed or Lovenox should be prescribed.

Dr. Beer's rule of thumb is that for one copy of one mutation, you take 2.2 mg of Folgard (prescription Folic Acid... just taking over-the-counter Folic Acid won't do) and for two copies, whether they are of the same mutation or different mutations, you take 4.4 mg of Folgard. This is for the rest of your life, not just related to fertility. YOU ALSO NEED TO TAKE ONE BABY ASPIRIN EVERY DAY for the rest of your life.

There is no risk of birth defects related to this mutation as long as you take your prescription Folic Acid.

danka · 03-24-2009, 08:06 AM

Thank you for your reply......
I read Dr. Beer's book that is what made me go get tested at SIRM in NY....They did immunolgy tests and that is the only thing that came back along with diminished ovarian reserve (i am only 28).....I have to look at my folgard prescription (I'm not sure how much I am taking) I take that along with prenatal vitamins and I know the bottle says take 1 a day but not sure how many mg
So I guess but what your desribing is that my severity is #2 according to Beer (I am going to look in his book as well) since I have one copy of each?

SWOhoney · 03-24-2009, 01:54 PM

hi I'm compound hetero as well. My dr put me on Metanx, he said it is better than folgard because folgard, just like any other FA pill is harder for people with MTHFR to metabolize, Dr. also put me on Neevo, it's a special prenatal vitamin for people with MTHFR, it contains the same type of folate as Metanx, I'm also on baby aspirin. After reviewing my cardiolipin levels and PT and APTT times she did not feel I would need lovenox, she said that if those were elevated then lovenox would be necessary, but if not, then there is no need for it.

If you are looking for some additional info, take a look at Charity's MTHFR tutorial. It's wonderful and she put everything together so well. Here is the link: http://www3.fertilethoughts.com/foru...d.php?t=610705

03-23-2009, 01:54 PM	#1 (permalink)
danka Registered User Join Date: Jan 2009 Location: new york Posts: 3	MTHR Help I just got diagnosed with MTHR......my labs say I'm compond heterozygous for the C677T and the A1298C mutation. Can anyone explain this to me? I've read that some MTHR are harder to treat than others? How do you know? I am currently taking prenatal vitamins, folgard, and baby aspirins, going to acupuncure and taking herbs. I will be doing my 3rd cycle in June when at that time they will put me on heparin or lovenox. My RE explained it to me but am still a but confused, any help would be great......

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03-24-2009, 05:38 AM	#2 (permalink)
forevermyheart Registered User Join Date: Feb 2009 Location: NY Posts: 3	Hello Danka! I also tested positive for the MTHFR mutation and did some research on it as it is all very confusing. Here is some information from another site that really helped me out. MTHFR mutations come in two forms: A1298C and C677T. If you have one copy of one mutation, you are "heterozygous for A1298C" or "heterozygous for C677T", depending on which one you have. If you have one of each, you are "compound heterozygous for MTHFR mutations". If you have two copies of one mutation, you are "homozygous for A1298C" or "homozygous for C677T". According to Dr. Beer (a world-leading reproductive immunologist you'll read a lot about on this board), this is the order of severity of the different mutations: 1.) most significant = homozygous for C677T 2.) next most significant = compound heterozygous 5.) least significant = heterozygous for A1298C I know that "homozygous for A1298C" and "heterozygous for C677T" are numbers 4 and 5 in terms of significance, but I can't remember which order... These mutations are associated with blood clotting, and a tendancy for your blood to clot up in the teeniest, tiniest blood vessels in your body. And guess where those are... the uterus. So, YES, that could be the reason for your two miscarriages (I'm so sorry to hear about them.) But, if you take the baby aspirin and Folgard, and possibly Lovenox (low molecular weight heparin) you are NOT at risk for additional miscarriages, any more than the average woman (remember, first-trimester m/c's can be caused by a variety for factors unrelated to the mother.) If possible, I highly recommend seeking out a consultation with a reproductive immunologist to clarify whether other tests are needed or Lovenox should be prescribed. Dr. Beer's rule of thumb is that for one copy of one mutation, you take 2.2 mg of Folgard (prescription Folic Acid... just taking over-the-counter Folic Acid won't do) and for two copies, whether they are of the same mutation or different mutations, you take 4.4 mg of Folgard. This is for the rest of your life, not just related to fertility. YOU ALSO NEED TO TAKE ONE BABY ASPIRIN EVERY DAY for the rest of your life. There is no risk of birth defects related to this mutation as long as you take your prescription Folic Acid.

03-24-2009, 08:06 AM	#3 (permalink)
danka Registered User Join Date: Jan 2009 Location: new york Posts: 3	Thank you for your reply...... I read Dr. Beer's book that is what made me go get tested at SIRM in NY....They did immunolgy tests and that is the only thing that came back along with diminished ovarian reserve (i am only 28).....I have to look at my folgard prescription (I'm not sure how much I am taking) I take that along with prenatal vitamins and I know the bottle says take 1 a day but not sure how many mg So I guess but what your desribing is that my severity is #2 according to Beer (I am going to look in his book as well) since I have one copy of each?

03-24-2009, 01:54 PM	#4 (permalink)
SWOhoney 600-699 post 8 of hearts Join Date: Oct 2008 Location: Washington, DC Posts: 608	hi I'm compound hetero as well. My dr put me on Metanx, he said it is better than folgard because folgard, just like any other FA pill is harder for people with MTHFR to metabolize, Dr. also put me on Neevo, it's a special prenatal vitamin for people with MTHFR, it contains the same type of folate as Metanx, I'm also on baby aspirin. After reviewing my cardiolipin levels and PT and APTT times she did not feel I would need lovenox, she said that if those were elevated then lovenox would be necessary, but if not, then there is no need for it. If you are looking for some additional info, take a look at Charity's MTHFR tutorial. It's wonderful and she put everything together so well. Here is the link: http://www3.fertilethoughts.com/foru...d.php?t=610705