I have just been diagnosed with MTHFR A1298C Homozygus

I have just been diagnosed with MTHFR A1298C Homozygus.  The doctor has put me on folic acid and 1 baby aspirin a day.  I just lost a baby in June at 15 weeks.  I have a 13 year old son and had no complications with him.  I have been reading about this and am very confused.  There are several different types of mutations.  Can you tell me what they are and which ones are more serious?

[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.

[curious1995]

I have just been diagnosed with MTHFR A1298C Homozygus
by curious1995, Jul 15, 2009 09:50PM
I have just been diagnosed with MTHFR A1298C Homozygus.  The doctor has put me on folic acid and 1 baby aspirin a day.  I just lost a baby in June at 15 weeks.  I have a 13 year old son and had no complications with him.  I have been reading about this and am very confused.  There are several different types of mutations.  Can you tell me what they are and which ones are more serious?

[sdestep]

A related discussion, Is a MTHFR C1298A Mutation a Concern? was started.