HFE variant
This is from being homozygous for HFE C282y*. This leads to a defective HFE protein and failure to produce hepcidin, This, inability to produce Hepcidin leads to excessive iron absorption from the gut.
Clinical symptoms present in the 3rd to 5th decades of life. Males show earlier than females as females lose iron from menstruation.
Iron accumulation causes
- Liver cell injury - eventually leading to cirrhosis and liver cancer
- Joint pain
- Fatigue