How is hereditary hemochromatosis diagnosed?

Hereditary hemochromatosis often goes undiagnosed because its symptoms are similar to those of many other disorders. Often, hemochromatosis is suspected when high iron levels are found on routine blood tests.

To make a diagnosis of hereditary hemochromatosis, the doctor will use:

  • History and physical examination: The doctor will begin with a complete history and physical exam. During the physical exam, the doctor may see changes in skin color or detect swelling of the liver and possibly the spleen. The doctor will also ask about any family history of hemochromatosis or unexplained liver disease.
  • Blood tests: The doctor will order a series of blood tests to measure the amount of iron in the body. The tests will also help rule out other disorders as the cause of the symptoms.

If these tests show higher-than-normal levels of iron in the body, a special blood test can be used that looks for the HFE gene defect. This will confirm that the patient has hemochromatosis. (Genetic testing can also be used as a screening tool in relatives of individuals with proven hemochromatosis to detect the disease before it damages the organs.)

MRI scans are increasingly used to estimate the amount of iron in the liver. In some cases liver biopsy may be needed. During a liver biopsy, a small piece of liver tissue is removed with a fine needle. The tissue is examined under a microscope. The biopsy can show the level of iron in the liver and the extent of liver damage.

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