Common "Mthfr Mutation" queries answered by top doctors | iCliniq

Mthfr Mutation

MTHFR stands for methylenetetrahydrofolate reductase. It is an enzyme that helps in breaking amino acids into homocysteine and folate. A genetic mutation causes high levels of homocysteine in the blood with low folate levels and other vitamins. It can cause serious problems in the body like homocystinuria, anencephaly, spina bifida, and others. The symptoms of MTHFR mutation are bipolar disorder, schizophrenia, pain and fatigue, and colon cancer. It is treating by taking folate and vitamin B 12 supplements and lifestyle modification.

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I have a genetic mutation. How to lower my high B12 levels?

Query: Hello doctor, I have genetic mutation MTHFR. I am on thyroid for hypothyroidism. My B12 level is 1476, the normal range is between 138 to 652 pmol/L. How can I lower my B12 level? Is this level a cause for concern? All the other blood levels are normal other than WBC which is at 3.4 and neutrophils ...  Read Full »


Dr. Elina Angelova Beleva

Answer: Hello, Welcome to icliniq.com. It is essential to know the primary reason for vitamin B12 testing. Was it done due to any complaints that could be related to anemia like fatigue, malaise, or any other symptoms that could be related to thrombotic complications possibly due to the inherited MT...  Read Full »

Please interpret my breast ultrasound for enlarged lymph nodes and breast cancer.

Query: Hello doctor, I need help to understand the attached breast ultrasoud. I also have the MTHFR gene mutation inherited from both parents and want to know if it will affect my lymphocyte count to be high. I am taking Maxalt for migraines.  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hi, Welcome to icliniq.com. I have seen the attached report (attachment removed to protect patient identity). MTHFR gene mutation is not an independent risk factor for breast carcinoma. The association between this gene mutation and breast malignancy is not fully understood. However, in your att...  Read Full »

I am five months pregnant; I noticed mild bleeding. Please help.

Query: Hello doctor, I am 31 years old, conceiving for five months now. I had two miscarriages in last three years at week six. I also have the MTHFR gene in my body. Recently, I noticed pink discharge and light bleeding from day 10 to 15 of my cycle. It is irregular and I do not have heavy bleeding, just...  Read Full »


Dr. Sanap Sneha Umrao

Answer: Hello, Welcome to icliniq, I have gone through your case and I understand your concern, I believe you must have done various investigations and USG (ultrasonography) scans, it would be better if I would see them so that, I can help you better. Due to MTHFR gene mutation, there will be improper utili...  Read Full »

I have burning palms and feet and depression. Please help.

Query: Hello doctor, I have megaloblastic anemia, but no intrinsic factor deficiency and have been diagnosed for nine years. I have taken CBC and intrinsic factor tests. My current medication is Methylcobalamin. I have an MTHFR gene mutation in both alleles, but I am largely unresponsive to my weekly 1000 ...  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hello, Welcome to icliniq.com. Thank you for your query. You are having an MTHFR (methylenetetrahydrofolate reductase) gene mutation, so your metabolism of homocysteine can get affected. Homocysteine can be elevated in such a mutation. So check your homocysteine level. Because a high level of it...  Read Full »

Will heterozygous Factor-2 Mutation with clotting factors cause miscarriages?

Query: Hi doctor, I am a 43-year-old female with a history of four recent miscarriages in the past 11 months, two chemical pregnancies, one blighted ovum, and one miscarriage at 7.5 weeks after heartbeat not seen at the second ultrasound. I recently discovered I am heterozygous for Factor-2 Mutation, and ...  Read Full »


Dr. Poonguzhali Liston

Answer: Hello, Welcome to icliniq.com. I understand your concern. Clotting factors 1 to 13 are normally present in our body to aid in clotting and bleeding mechanisms in case of injury. The gene that codes for these proteins are inherited from both parents, and any mutation in this will lead to changes in...  Read Full »

Should I avoid folic acid during MTHFR pregnancy?

Query: Hello doctor, I am 5 weeks pregnant and I have MTHFR and PAI mutations. My doctor recommended me to take Folic acid. I read it should be avoided during MTHFR pregnancies. Along with that I am on Prozac and Euthyrox. What do you think? What should I do? Please help.  Read Full »


Dr. Sanjay Kumar Bhattacharyya

Answer: Hi, Welcome to icliniq.com. Truly speaking, MTHFR - methylene tetrahydrofolate reductase mutations are widely spread and all most one half of the population is having or carrying these mutations by different extent. By different extent, I mean to say, various levels of affection or involvement tha...  Read Full »

I am suffering from JAK2+ ET and an MTHFR defect and started on HU. What should I consider next?

Query: Hi doctor, I am a 70-year-old female. I have JAK2+ ET and an MTHFR defect (homozygous). I was diagnosed and started on HU (800 mg QD). I take two non-enteric coated ASA BID. I had visual dimming and increased headaches (they responded to triptans). An MRI revealed two tiny infarcts. My stroke as a y...  Read Full »


Dr. Abdul Aziz Khan

Answer: Hi, Welcome to icliniq.com. After reviewing your history and detailed medical report, my opinion is that, you need regular follow up with your hematologist for ET (essential thrombocythemia). Regarding your anticoagulation therapy whenever any thrombosis occurs, you need full anticoagulation thera...  Read Full »

What is MTHFR mutation?

Query: Hello doctor, My son is 19 months old and his blood count and neutrophils came back low. He has MTHFR 1298c homozygous and would like some advice on what can it be? He is currently on vitamin B supplements.  Read Full »


Dr. Muhammad Zubayer Alam

Answer: Hi, Welcome to icliniq.com. I can understand your concern. According to your statement, your son recently has done a blood report and revealed that blood count and neutrophil count are low. MTHFR A 1298C has implicated homocysteine metabolism as well as the folate cycle. It is a genetic disorde...  Read Full »

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