MTHFR Mutations

MTHFR is an acronym for Methylenetetrahydrofolate reductase. It is both the name of a gene, and the name of the enzyme which that gene produces. Individuals with a mutated copy of this gene produce an enzyme that is less effective at breaking down the amino-acid homocysteine. The mutation can occur at one of two sites on the gene. Since we receive two copies of each gene, one from our father and one from our mother, there are a few different possibilities for the disorder. The C667T mutation can be heterozygous, one mutated copy, or homozygous, with both genes having the mutation. The same is true for the A1298C mutation. Compound heterozygotes have a single mutation at both the C and A locations. A person with the homozygous C mutation can only produce the defective MTHFR enzyme. These individuals are at the highest risk for developing hyperhomocysteinemia - an excess of homocysteine in the blood, especially if their dietary intake of folate is low. High levels of homocysteine damage the blood vessels, leading to an increased chance of developing blood clots, which in turn elevates the risk of deep vein thrombosis, pulmonary embolism, heart attack and stroke.

A MTHFR mutation may go undiagnosed until a woman has experienced several pregnancy losses. I was not diagnosed until after my second preterm labor and delivery. Some women with this mutation have trouble conceiving or have early miscarriages. In my case, after receiving the diagnosis I was treated by a Perinatologist who specializes in high-risk pregnancies. I was given Folgard, a Prenatal With DHA Vitamin and a low-dose aspirin regimen before trying to conceive and once my pregnancy was confirmed and my beta HCGs were rising I was switched from the aspirin to Innohep, a low molecular weight heparin daily injection. This therapy was a success, and I had my son full term and without complications on October 1 2010.

You took the vitamins and Aspirin and Heparin, and after nine months of worrying finally have your beautiful baby. But now you wonder, "Does my child have this Mutation too?" If you have a homozygous mutation, your child got one of your bad copies of this gene. For heterozygotes, you don't know which copy was passed to your baby. But you don't need to worry (but I know you will anyway) just make sure you child's pediatrician knows of the history. Make sure you give your child a children's multivitamin daily plus a DHA supplement for kids and that will be all they need. If you have a daughter, when she decides to have a child she will need to be tested for the mutation. She will have the benefit of foreknowledge and will hopefully avoid the tragedy so many of us had to endure before we received our diagnoses.

I have been donating blood since high school. After I found out about my MTHFR mutation I wondered if I would still be eligible to donate blood. My daughter Madelyn required multiple transfusions during her short time with us, so I really wanted to donate in her memory. After my iron levels were back up to normal I took a trip to the local Red Cross Donation Center. I spoke with the nurse there, and she told me that I could donate whole blood as long as I wasn't taking any blood thinners, eg. heparin, lovonox, innohep. The aspirin was ok to take for donating whole blood, but not if you want to donate plasma. It feels good to donate blood, even though I end up tearing up each time, thinking about my little girl.

Believe it or not there are some benefits to this mutation. There is a decreased risk of both colon cancer and leukemia. In fact, scientists are studying the relationship between MTHFR and cancer risk to one day develop a treatment for cancer therapy.