It may be inherited or acquired. Genetic haemochromatosis has autosomal recessive inheritance and is the result of excessive absorption of iron from the intestine despite normal or high body iron stores.
Iron accumulates in the liver, pancreas, heart, joints and pituitary.
Iron overload only reaches levels where there is tissue damage in the third to fifth decade of life, and therefore children are rarely if ever affected. In the early stages genetic haemochromatosis may be difficult to recognise as the symptoms are often vague and non-specific. These include fatigue, abdominal pain, and joint aches and pains. The liver function tests may be mildly abnormal. If this is present, mutation analysis for the C282Y mutation identifies those patients with genetic haemochromatosis.