DISEASE SCANNER
Global Incurable Diseases Tracker
Hereditary Hemochromatosis
An inherited disorder causing excessive iron absorption and deposition in organs, leading to organ damage. Most common form caused by HFE gene mutations (C282Y). Called 'bronze diabetes' historically due to skin pigmentation and diabetes.
1.5M
17
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Excellent with phlebotomy treatment. Normal life expectancy if diagnosed before organ damage. Cirrhosis and diabetes preventable. Regular screening of first-degree relatives recommended.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Therapeutic phlebotomy to maintain ferritin <50 ng/mL. Iron chelation for selected patients. Early diagnosis prevents organ damage. Genetic testing for family members. Liver transplant for end-stage liver disease.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.