Sign-in to Ask A Doctor - 24x7
OR
Sign in with GoogleGet your health question answered instantly from our pool of 18000+ doctors from over 80 specialties
What Does The Following MTHFR Blood Test Report Suggest?
I recently had the MTHFR blood testing and certain mutations were found and I need to see a Hehatologist to discuss the findings and what should be done. I would like to see a doctor in Lexington, Ky. . Who do you recommend? Thanks. This is neat to be able to talk to a doc online. First time for me to do so.!
posted on
Sun, 17 May 2015
Medically reviewed by
Ask A Doctor - 24x7 Medical Review Team
Wed, 19 Nov 2025
Answered on
Tue, 2 Dec 2025
Last reviewed on
Hello,
When testing brings to notice an MTHFR mutation, it means a genetic variation in the enzyme that enables processing of folate. Most are usually rather common and do not, themselves, cause major illness. Yet, a requirement of simple supplementation or follow-up blood work is based on the exact mutation and whether it impacts folate levels or homocysteine levels. A hematologist will check for this.
What is important is the mutation in and of itself does not automatically mean something dangerous is happening; it just means a specialist has to look at the report in context with your symptoms, homocysteine levels, and family history.
Look for a board-certified hematologist who deals with clotting disorders and nutritional hematology. For real-life practice, if my patients come in with such a report, I usually repeat the homocysteine test and review their intake of folate. A specialist may recommend a particular form of folate; however, this should be done after reviewing a full picture. So getting that in-person appointment is the right move. Bring your report and previous blood tests to your hematologist.
Take care. Hope I have answered your question. If you have any further query I will be happy to help. Wish you good health.
Regards,
Dr. Usaid Yousuf, General and Family Physician
When testing brings to notice an MTHFR mutation, it means a genetic variation in the enzyme that enables processing of folate. Most are usually rather common and do not, themselves, cause major illness. Yet, a requirement of simple supplementation or follow-up blood work is based on the exact mutation and whether it impacts folate levels or homocysteine levels. A hematologist will check for this.
What is important is the mutation in and of itself does not automatically mean something dangerous is happening; it just means a specialist has to look at the report in context with your symptoms, homocysteine levels, and family history.
Look for a board-certified hematologist who deals with clotting disorders and nutritional hematology. For real-life practice, if my patients come in with such a report, I usually repeat the homocysteine test and review their intake of folate. A specialist may recommend a particular form of folate; however, this should be done after reviewing a full picture. So getting that in-person appointment is the right move. Bring your report and previous blood tests to your hematologist.
Take care. Hope I have answered your question. If you have any further query I will be happy to help. Wish you good health.
Regards,
Dr. Usaid Yousuf, General and Family Physician
I find this answer helpful
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer.
For a more detailed, immediate answer, try our premium service
[Sample answer]
Related questions you may be interested in
Loading Online Doctors....