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What is MTHFR mutation?

This Premium Q&A, reviewed and published, features a real conversation between an iCliniq user and a physician.

Patient's 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.

Answered by Dr. Muhammad Zubayer Alam

Education:

MBBS

Professional Bio:

Dr. Muhammad Zubayer Alam is a General Practitioner and Family Physician with broad clinical experience. He specializes in Pulmonology and Internal Medicine, delivering expert care for respiratory and internal conditions. With a patient-centered approach, he emphasizes accurate diagnosis, effective treatment, and prevention, providing comprehensive, personalized care to improve health outcomes and quality of life for patients across all ages.

This doctor is not available for online consultations on the platform anymore.

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 disorder that may lead to high levels of homocysteine in the blood and low folate levels and other vitamins. It usually does not need any special treatment. Vitamin B supplements should be taken, but the doctor needs to determine the exact causes of increased homocysteine levels to exclude the causes.

Patient's Query

Thank you doctor,

Why are the neutrophils low? What can it be? It concerns me more.

Answered by Dr. Muhammad Zubayer Alam

Education:

MBBS

Professional Bio:

Dr. Muhammad Zubayer Alam is a General Practitioner and Family Physician with broad clinical experience. He specializes in Pulmonology and Internal Medicine, delivering expert care for respiratory and internal conditions. With a patient-centered approach, he emphasizes accurate diagnosis, effective treatment, and prevention, providing comprehensive, personalized care to improve health outcomes and quality of life for patients across all ages.

This doctor is not available for online consultations on the platform anymore.

Hi,

Welcome back to icliniq.com.

A low neutrophil count is known as neutropenia. Neutropenia may result from various reasons such as Folate or vitamin B12 deficiencies; any type of viral infections such as influenza, Epstein virus, Cytomegalovirus, hepatitis, HIV; medications like penicillin or anti-seizure drugs; autoimmune neutropenia; splenomegaly due to many causes; congenital neutropenia; bone marrow infiltration like leukemia; idiopathic (unknown cause) neutropenia; etc.

From the causes mentioned above of neutropenia, I think your child's low neutrophil count may result from folate or vitamin B 12 deficiencies, and they also help in blood production. So any deficiency may cause a low blood count, as well as a low neutrophil count. Vitamin B complex with folate supplements is the treatment of choice and closely observe for detecting any further complications like a fever.

I hope this helps.

Medically reviewed by Dr. Vinodhini J.
Published At December 11, 2020
Reviewed At May 12, 2026

Education:

MBBS

Professional Bio:

Dr. Muhammad Zubayer Alam is a General Practitioner and Family Physician with broad clinical experience. He specializes in Pulmonology and Internal Medicine, delivering expert care for respiratory and internal conditions. With a patient-centered approach, he emphasizes accurate diagnosis, effective treatment, and prevention, providing comprehensive, personalized care to improve health outcomes and quality of life for patients across all ages.

This doctor is not available for online consultations on the platform anymore.

Education:

BDS

Professional Bio:

Dr. Vinodhini J. is a Dental Surgeon with extensive years of clinical experience. She specializes in the diagnosis, prevention, and treatment of dental and oral health issues, including restorative, surgical, and cosmetic procedures. With a patient-centered approach, she focuses on maintaining oral health, alleviating discomfort, and enhancing smiles. Her expertise ensures comprehensive care tailored to each patient’s dental needs and overall wellbeing.

This doctor is not available for online consultations on the platform anymore.

Same symptoms don't mean you have the same problem. Consult a doctor now!

Education:

MBBS

Professional Bio:

Dr. Muhammad Zubayer Alam is a General Practitioner and Family Physician with broad clinical experience. He specializes in Pulmonology and Internal Medicine, delivering expert care for respiratory and internal conditions. With a patient-centered approach, he emphasizes accurate diagnosis, effective treatment, and prevention, providing comprehensive, personalized care to improve health outcomes and quality of life for patients across all ages.

This doctor is not available for online consultations on the platform anymore.

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