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What is a hereditary hemochromatosis DNA mutation?

2 doctors weighed in
Dr. Anne Larson
Internal Medicine - Hepatology
1 doctor agrees

In brief: Gene Mutation

This is a mutation in one of the genes that help to process iron absorption.
The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease.

In brief: Gene Mutation

This is a mutation in one of the genes that help to process iron absorption.
The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease.
Dr. Anne Larson
Dr. Anne Larson
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