I have a mutation in the gene that showed up when I was being tested for Factor V Leiden which my sister has. I had developed a blood clot after a car accident and mentioned to the Doctor that my sister had been taking a blood thinner since her late 20's after an accident and a stroke & they found the Factor V in her blood. The doctor wanted me tested and it came up with the MTHFR mutation. I ran searches after finding out as the Doctor never really told me it affected anything to be concerned about. I didn't have the Factor V Leiden like my sister and that was what she was more concerned about.
MTHFR and Pregnancy
Because of a mother with MTHFR’s inability to efficiently metabolize folic acid and vitamin B9, the disorder has been linked to a variety of pregnancy complications such as chromosomal abnormalities, such as Down syndrome, and congenital malformations.
Elevated levels of homocysteine have been associated with placental disease, preeclampsia and recurrent pregnancy loss. 21% of women with high levels of homocysteine experience recurrent pregnancy loss.
Because MTHFR is a blood-based disease with many varieties, symptoms vary depending on the exact mutation of the disease. They can include:
Blood testing is the most accurate way to screen for MTHFR. This is especially true if women have a history of complicated pregnancies, including recurrent pregnancy loss and/or stillbirths, or if they have given birth to a child with neural tube defects, such as spina bifida.
Taking folic acid can help women with certain mutations of the disease. Folic acid can be found in eggs, dark leafy vegetables, such as spinach and broccoli, oranges and orange juice and legumes, such as peas and dried beans. Vitamin supplements also contain folic acid.
For more information on MTHFR, visit the following link: http://www.pregnancy-info.net/forums//answers-MTHFR_/
I had to go look at a copy from the report to see which mutation was found. They look at the C677T and the A1298C. Mine mutation was in the 2nd one. According to the report elevated levels of homocysteine have not been reported when a single A1298C mutation is found. It also said that the diagnosis of hyperhomocysteinemia can not rely on DNA testing alone but should take into consideration clinical findings and other studies such as serum homocysteine levels. Because MTHFR mutations and their associated risks are inherited, genetic counseling is recommended.
Were you tested & came up with mutations in one or both of what I mentioned?
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