What can you tell me about being homozygous for the A1298C, without the C677T mutation

[Pegfor]

I just tested positive for two copies (homozygous) for the A1298C mutation, without the C677T mutation.  I have am  heterozygote positive for Factor V Leiden.  I am 57 years old and I have NOT had any miscarriages (I had 2 live births), no strokes, and to no blood clots. I do have have signs of advanced small vessel disease in my MRI. Because of that I have been taking 325 mg Aspirin + 75 mg Plavix for about two years now. I also had a Lipoprotein test in the normal range of 11.  

This week I tested positive as homozygous A1298C (without the C677T mutation) and Positive for Cardiolipin AB Screen. My hemotologist has perscribed Folbic Tablets.  What can you tell me about MTHFR and the homyzygous A1298C without the C677T mutation?  

[Jordanna Joaquina, MS, CGC]

The A1298C gene variant is found in the MTHFR gene. This gene produces an enzyme that is important in the metabolism of homocysteine, an amino acid.

We all have two copies of the MTHFR gene, one from each parent. People with two copies of the A1289C gene variant are referred to as homozygous. Having two variants/mutations, such as A1298C, can cause elevated homocysteine levels.

MTHFR deficiency, in the presence of elevated homocysteine levels, has been associated with a variety of health issues including an increased risk for venous thromboembolism (the formation of a blood clot in a vein), early onset cardiovascular disease, and adverse pregnancy outcome including fetal growth restriction, preeclampsia, miscarriage and placental abruption. However, these risks may not be increased in the presence of normal homocysteine levels. A blood test can be performed that measures plasma homocysteine levels.

We recommend that you continue to follow-up with your physician. We may also benefit from meeting with a genetic counselor who can review your personal and family history as well as discuss the genetics and inheritance of MTHFR deficiency. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. We wish you the best.

[Pegfor]

Thank you for answering my question on the A1298C gene variant in the MTHFR gene.  I was just recently diagnosed from blood tests and was confused as to what I could or should do. Your suggestion about meeting with a genetic counselor was helpful. I have small vessel disease, and have been worried about it eventually leading to Alzheimers or Dementia. My "maternal grandmother" had dementia, as did one of my Aunts.  My mother died at 31 years old, and my sister at 46 years old from other causes, so I do not know if they would have developed it. I did NOT have any problems with my two pregnancies. My other concern is that I have a "paternal grandmother" that had a stroke, she was over weight, and had adult Diabetes I do not have any signs of diabetes, although I am over weight. I plan to work on my weight.  If you have any further advice on what I can or should do next, I would appreciate it.  Thank you again for your answer!