Hemochromatosis is a relatively common genetic condition that causes the body to accumulate too much iron. According to the MayoClinic.com people with hemochromatosis may absorb 5 to 20% more iron than normal. Storing large amounts of iron can damage organs and raise the risk of developing a number of serious conditions including liver damage, cancer, diabetes, cardiovascular disorders and arthritis. Organ damage usually occurs slowly and symptoms do not become apparent for years. Commonly, they first appear between age 30 and 50 in men and after 50 in women, although men and women are equally likely to inherit the mutated gene called HFE that causes hemochromatosis.
Hemochromatosis can be difficult to diagnose as many symptoms are similar to other conditions that are more common. Non-specific symptoms include arthritis or joint pain, fatigue and low energy, impotence, lack of menstruation, high blood sugar or diabetes, hypothyroidism, abdominal pain, liver enlargement and abnormal liver function tests. A more specific sign is hyperpigmentation of the skin resulting in grey- or bronze-coloured skin. However, many people do not experience any symptoms at the time of diagnosis. If the disease is not found early iron accumulation in the joints results in arthritis; the liver could develop cirrhosis or cancer, excess iron also can cause heart arrhythmias or heart failure.
Blood tests assist in confirming diagnosis. The iron panel tests measure the amount of iron bound to a protein (transferrin) that carries iron in the blood (saturation). Transferrin saturation values greater than 45% are considered too high. Serum ferritin measures the amount of iron stored in the liver. Values higher that 200ug/L require further investigations. Sometimes a liver biopsy is used to measure the amount of iron present and also to look for liver damage. Genetic tests can be performed to confirm that a person carries the mutated gene.
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