Contents
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.
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.
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.
- Pietrangelo A. Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin. Gastroenterology 2015; 149:1240.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
AI Doctor Visit Required
Appointments available 24/7
Top licensed doctors
Available in all 50 states
Full service care
Prescriptions, referrals & treatment
No insurance needed
All notes available in Doctronic
15-min consultation. No hidden costs.
AI Doctor Visit Required
Please Chat With Our AI Doctor First
Our AI doctor assessment helps our human doctors prepare for your video visit and provide better care
For safety reasons we have been forced to end this consultation.
If you believe this is a medical emergency please call 911 or your local emergency services immediately.
If you are experiencing emotional distress, please call the the Suicide & Crisis Lifeline at 988 or your local crisis services immediately.
Contact us
You can also email us at help@doctronic.ai
We aim to reply within 5-7 days
How likely are you to recommend Doctronic to friends or family?