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Hi all. I had posted over the weekend but didn't realize no one looks much on the weekend so I  thought I'd try again. I'm desperate for information, my doctor is no help and they will refer me to a genetic specialist but apparentley not for a while.
I am hetero for MTHFR and my husband is homozygous. Does anyone have info about this topic? Especially what it means that my husband and I both have it? Would we have a baby with problems even if I do get treatment when I try and get pregnant? I've had 3 miscarriages this year, I'm 24 and have no health problems. Thank you!
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Hi there. I am compound hetero for mthfr.  I had two m/cs before I was diagnosed with this. (This is a very simple explanation...for more info, you can google this and get more technical info) Here is what I have found:

MTHFR (Methylene-Tetra-Hydro-Folate-Reductase) mutations- it is important that you find out which category of this mutation you fall under. This mutation could be either:

a) heterozygous (there are two parts to this gene, and each part has two parts, so there is a possiblity of 4 places for mutations. Heterozygous means you have one mutation on one part of the gene. This is the most common and impacts you the least),

b) compound heterozygous (this would be one mutation on each part for a total of two mutations. This would be a little more serious, but still fixable), and

c) homozygous (this is when you have both mutations on one part. This is the most serious of the mutations)

I did some more research and found an interesting site (which I lifted this info from).

"First, with MTHFR, there are two different kinds of mutations, as you've said, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous."

The most severe MTHFR problems occur with homozygous C677T, meaning two copies of the "C" mutation. Next most serious is compound hetero, which means one copy of the "A" mutation and one copy of the "C" mutation. Next most serious is one "C" mutation. After that, it's two "A" mutations. The least serious is a single "A" mutation.

Any and all of these mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause trouble. Many other MTHFR patients have normal homocysteine levels, yet have had implantation problems and/or m/c's due to clotting problems. So it is important to find out your homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.

Heterozygous MTHFR is fairly common in caucasion populations and is the "lesser" of the mutations. Compound heterozygous and homozygous MTHFR have definitely been linked to implantation failure, late term miscarriages and overall vascular health and also anything dealing with birth defects that lack of folic acid can cause. Which ever type of MTHFR you have, it should not be discounted. There is, however, a lot of controversy on this topic. Some drs say it does have an effect on fertility, other drs say no. Go with your dr's advice and your gut with this.

Essentially what this means is that the genes that instruct MTHFR to convert homocysteine to Methionine are mutated and may not be capable of doing this important function. MTHFR is an enzyme that converts homocysteine to an essential amino acid (methionine). When the genes are mutated you may be lacking this enzyme. Your homocysteine levels can possibly climb making the blood clot. Some doctors don't check for the MTHFR mutations and rely only on homocysteine levels. This isn't as reliable as testing for the mutations because homocystein levels fluctuate (if you catch your level on a normal day, you may go undiagnosed).

Many doctors prescribe folgard which is high levels of folic acid, b12 and b6. These vitamins are what the body essentially needs to convert homocyteine to methionine. To put this into perspective, the average prenatal has 800mcgs of folic acid (200% of the normal daily value). I am compound heterozygous, and I am required to take 5mgs of folic acid/b vitamins (6 times more than the prenatals have in them plus the prenatal!)

The research I have found discussed only the female's fertility risks from mthfr. I couldn't find much on the male's risks. There was a study on mice that suggested sperm issues, but that is mice and your husband isn't a mouse! You might also try this site for more information.


I wish you much luck!
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