How is hemochromatosis diagnosed?

Because hemochromatosis is a genetic disease, diagnosis can be difficult.

The U.S. government's National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) offers the following information:

A thorough medical history, physical examination, and routine blood tests help rule out other conditions. 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 reveals how much iron is bound to the protein that carries iron in the blood. Transferrin saturation values higher than 45 percent are considered too high.
• The total iron binding capacity test measures how well your blood can transport iron, and 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 genetic HFE mutation, which will confirm the diagnosis. If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup and the doctor will look for other causes.
• A liver biopsy may be needed, in which case a tiny piece of liver tissue is removed and examined with a microscope. The biopsy will show how much iron has accumulated in the liver and whether the liver is damaged.

Hemochromatosis is considered rare, and doctors may not think to test for it. Thus, the disease is often not diagnosed or treated. The initial symptoms can be diverse, vague, and mimic the symptoms of many other diseases. The doctors also may focus on the conditions caused by hemochromatosis—arthritis, liver disease, heart disease, or diabetes—rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life.