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Idiopathic Hemochromatosis - Hemochromatosis


Diagnosis & Tests

How is the disease diagnosed?

Hemochromatosis is diagnosed by measuring the amount of iron in the blood. There are several blood tests that can do this:

  • serum ferritin, which measures the protein that acts as a carrier for iron in the blood stream
  • serum iron, which measures iron concentrations in the blood
  • total iron-binding capacity, or TIBC, which measures the amount of iron that can potentially be stored in the blood
  • The level of iron compounds in the urine may also be measured. Also, a liver biopsy may be done to obtain tissue for examination in the laboratory. Now that the gene that causes hemochromatosis has been identified, however, DNA testing to examine a person's genes may be done to diagnose the disease.


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