Hemochromatosis is one of the most common genetic disorders among Caucasians. Internationally, it is the most common form of iron overload disease. The disease is characterized by abnormally high absorption of iron by the intestinal mucosa and high level of deposition of iron in the skin, pancreas, hearts, joints, and testes. This build-up of iron can damage these organs. Typical symptoms of the condition include joint pain, fatigue, abdominal pain, and heart problems. Long-term patients may also show arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.
Men usually develop the disease at an earlier age (30-50 years) than women do (50 years). The amount of iron in the blood can be easily measured by blood tests. In addition, gene tests are available to detect mutations in the HFE gene, responsible for causing hemochromatosis. Liver biopsies can also give a picture of the amount of iron in the liver, and the extent of damage cause to it. Management of the disease involves removal of blood, also known as phlebotomy, till the iron level comes down to normal. Patients are advised to limit their iron intake, and not to consume alcohol or raw oysters.