What is Hereditary Hemochromatosis and Why Should You Care?

Published: May 11, 2024

Hereditary hemochromatosis (HH) is a genetic condition that causes the body to absorb too much iron. Understanding this condition is crucial because it can lead to serious health issues if not managed properly.

What Causes Hereditary Hemochromatosis?

HH is mainly caused by a genetic mutation in the HFE gene, specifically the C282Y variant. This mutation leads to excessive iron absorption from the diet. However, not everyone with this mutation will develop iron overload, highlighting the role of other genetic and environmental factors in disease expression.

Who is at Risk?

HH is most common in individuals of European ancestry, with about 1 in 150 to 1 in 300 people affected. Men are generally more likely to experience severe iron overload than women, likely due to differences in iron loss through menstruation and pregnancy.

Hereditary hemochromatosis is a genetic disorder characterized by excessive iron absorption due to a mutation in the HFE gene, specifically the C282Y variant, leading to potential serious health issues if unmanaged.

Symptoms to Watch Out For

Symptoms often appear after the age of 40 in men and post-menopause in women. They include fatigue, joint pain, and skin discoloration. More severe symptoms can involve organ damage such as liver disease, diabetes, and heart problems.

Frequently Asked Questions

It's a genetic disorder causing the body to absorb too much iron.

People of European ancestry, particularly men, are most affected.

Symptoms often appear after age 40 in men and post-menopause in women.

Common symptoms include fatigue, joint pain, and skin changes.

Key Takeaways

Understanding and managing hereditary hemochromatosis is vital to preventing serious health complications.

Talk with Doctronic about any symptoms or family history related to hereditary hemochromatosis.

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References

Girelli D, Busti F, Brissot P, et al. Hemochromatosis classification: update and recommendations by the BIOIRON Society. Blood 2022; 139:3018.

Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13:399.

Always discuss health information with your healthcare provider.