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Is Double Gene Mutation Of MTHFR A Serious Cause For Concern?

Posted on Tue, 3 Jun 2014

Question: I recently took a DNA test for more information on my ancestry. My dna came back with a double gene mutation MTHFR Compound Heterogeneous. I had both 677 and 1298 mutation. I have taken this information to the VA doctor here in Nebraska who was not well educated on this matter and simply ignored it. I have been Ill my entire life and this is the first time I can connect those illness's with something and have a reason. I will need to see a regular doctor outside of the VA that cares to give the time of day to me as a patient and answers my questions... Am I on the right path seeing a regular doctor? How serious is compound Hetro?

Answered by Dr. Chakravarthy Mazumdar (15 hours later)

Brief Answer:
Meet Genetics Specialist plus Internal Medicine

Detailed Answer:
Hi,

Since you have two mutational genes you may have high levels of homocysteine in the blood. Kindly test for Serum Homocysteine levels. The high homocysteine levels would predispose one for early heart vessel disease.

High homocysteine levels in the blood are recognised as a risk factor for:
Venous thrombosis and stroke, Type 2 Diabetes and Obesity. It may also be the reason for recurrent abortions that you had.

High homocysteine levels in the blood have also been associated with
Stillbirths, Depression and other mood disorders.
The major cause of high homocysteine levels is folate deficiency. Other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene.

The next thing you should do is to meet a Genetics Specialist outside VA affairs, in XXXXXXX Most likely you need counseling and Folinic acid supplementation only.

You should follow up with regular Internal Medicinist regularly in XXXXXXX The following test help him understand if the supplementation works for you,
Serum Homocysteine
Red Cell Folate levels
Vitamin B12 levels in the blood
2&16 Urinary Oestrogen Metabolites
Functional Liver Detoxification Profile (FLDP)

I found the following experts that can be of help to you. You should travel to XXXXXXX

Dr. XXXXXXX G. Sanger, PHD
Medical Genetics, Clinical Cytogenetics
444 S 44th St, XXXXXXX NE 68131

Dr. XXXXXXX XXXXXXX MD
Medical Genetics
13906 Gold Cir, XXXXXXX NE 68144

Hope this helps you.

Above answer was peer-reviewed by : Dr. Aparna Kohli

Follow up: Dr. Chakravarthy Mazumdar (6 hours later)

this report I have from promethese is confusing. I am seeing mutations in BRCA genes as well both my mother aunt and fraternal grandmother had breast cancer great grandmother passed from cervical cancer. can a genetisist explain this report to me?

Answered by Dr. Chakravarthy Mazumdar (1 hour later)

Brief Answer:
Yes

Detailed Answer:
The Geneticist can explain you all about the report. THe relationship of all the genes to the physical risks.

All the best.

Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Aparna Kohli