Hemochromatosis – Diagnosis and Treatment


is a disorder where there is abnormally high absorption of iron in the body. People with hemochromatosis absorb up to 30% of iron from the food they take in, when it is healthy to absorb only 10% of it. Body dumps this extra iron in other body tissues, especially the tissues of liver, heart and pancreas. In this article let us know how this disease is diagnosed and treated with a brief note on its symptoms.

Some of the early symptoms of hemochromatosis are fatigue, abdominal pain, weight loss and joint pains. In advanced cases, complications like liver diseases, anemia and other diseases may arise.

Diagnosis of hemochromatosis:

Early diagnosis and treatment of hemochromatosis helps in preventing further organ damage. For this, doctor makes thorough physical examination and takes medical history of the patient. Next step is blood test.

Blood tests

are done to rule out other conditions that cause the symptoms. They also determine the levels of iron stored in the body. A specific blood test called

transferrin saturation test

shows how much iron is bound to the protein that carries iron in the blood. Transferrin saturation values more than 45% are considered high.

The total iron binding capacity test

measures how well iron is transported by the blood. The

serum ferritin test

shows the level of iron in the liver. If these tests show above the normal levels, a special blood test is done to see for HFE mutation to confirm the diagnosis.

Liver biopsy:

A liver biopsy is a simple procedure to see condition of the liver. Liver biopsy shows how much iron has accumulated and the extent of damage it has caused in the liver.

Treatment of hemochromatosis:

Management of hemochromatosis depends on the severity and complications of the disease. The first step, however, is to get rid of the extra iron in the body which is done by the process called


In this process, a pint of blood is taken once or twice a week for several months to a year and blood is purified of the extra iron.

Next step is to treat the diseases that cause hemochromatosis. It is again followed by treating complications of hemochromatosis. Those with severe complications of hemochromatosis may need to receive a treatment from a specialized hemochromatosis center.

You can get more information about types, mechanism, causes and symptoms of hemochromatosis in related articles on this site.

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