MTHFR Blood Disorder

Cailtin's Blood test results are in, she has: Homozygous C677T MTHFR blood disorder. Here's what I found on the internet: (Her sister, Courtney has Heterozygous A MTHFR and has experienced 3 miscarriages so far. At the time I am writing this post. Courtney is 3 mos. pregnant and progressing nicely with 40mg. lovenox shots once per day).

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.