Haemochromatosis: Features

Key points

• Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation. It is caused by inheritance of mutations in the HFE gene on both copies of chromosome 6*.
• 1 in 10 people of European descent carry a mutation genes affecting iron metabolism, mainly HFE
• prevalence in people of European descent = 1 in 200 Presenting features
• early symptoms include fatigue, erectile dysfunction and arthralgia (often of the hands)
• 'bronze' skin pigmentation