Haemochromatosis

1. Genetics -C282Y / Autosomal Recessive

2. Absorption of Iron despite overload leading to tissue deposition & damage -Liver, Pancreas, Joints, Heart, Pitutary

3. Tests- Ferritin Level- Transferrin raised-HF mutation analysis C282Y

4. Transferrin normal - consider Alcohol,fatty liver / Inflammation/ Haematological/

5. Ferritin >1000mcg/l / Raised ALT/ Hepatomegaly - consider liver biopsy

6. Family screening - essential for sibling risk

7. Management - Therapeutic / maintenance venesection.