What is Haemochromatosis?
Haemochromatosis is an inherited condition where the body absorbs too much iron from food, leading to iron overload in various organs.
Key Facts
- Most common inherited genetic condition in people of Northern European descent
- Affects approximately 1 in 200 people
- More common in men than women
- Usually becomes apparent between ages 30-60
Symptoms
Early Signs
- Fatigue and weakness
- Joint pain
- Abdominal discomfort
Advanced Symptoms
- Skin bronzing/darkening
- Liver problems
- Diabetes
- Heart abnormalities
- Arthritis
Diagnosis
-
Blood Tests
- Transferrin saturation test
- Serum ferritin level
-
Genetic Testing
- HFE gene mutation analysis
-
Liver Biopsy (if necessary)
Treatment Options
Primary Treatment
- Therapeutic phlebotomy (regular blood removal)
- Initial frequency: weekly
- Maintenance: 2-4 times per year
Lifestyle Changes
- Limit alcohol consumption
- Avoid iron supplements
- Restrict vitamin C supplements with meals
Prevention for Family Members
- Genetic screening for relatives
- Early detection through regular testing
- Lifestyle modifications if gene mutation present
Long-term Management
- Regular monitoring of iron levels
- Annual health check-ups
- Ongoing phlebotomy as needed
- Organ function monitoring
Complications if Untreated
- Liver cirrhosis
- Heart failure
- Diabetes
- Arthritis
- Endocrine problems