Haemochromatosis
저자: Poornima Joshi
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.
