Abnormal pigmentation of the skin, making it look gray or bronze. Damage to the pancreas, possibly causing diabetes. Damage to the adrenal gland. A thorough medical history, physical examination, and routine blood tests help rule out other conditions that could be causing the symptoms. This information often provides helpful clues, such as a family history of arthritis or unexplained liver disease.
Blood tests can determine whether the amount of iron stored in the body is too high.
The transferrin saturation test determines how much iron is bound to the protein that carries iron in the blood. The serum ferritin test shows the level of iron in the liver. If either of these tests shows higher than normal levels of iron in the body, doctors can order a special blood test to detect the HFE mutation, which will help confirm the diagnosis. A liver biopsy, in which a tiny piece of liver tissue is removed and examined under a microscope, will disclose how much iron has accumulated in the liver and whether it is damaged. Hemochromatosis is often undiagnosed and untreated.