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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.

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.

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 byDr. Vinodhini J.

Published At December 11, 2020
Reviewed AtMay 12, 2026

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