If Hereditary Hemochromatosis is discovered early enough, the damages from it are reversible.  There are several blood tests that measure the amount of iron in the blood.  Some of the tests include: serum ferritin which measures the blood level of the protein which puts iron into the body, serum iron which measures iron concentrations in the blood stream, total iron-binding capacity (TIBC), which measures the amount of iron the blood can carry through the body, and transferrin saturation percentage, which is computed by dividing TIBC into the serum iron.  There is also a raised transferrin saturation percentage, or serum ferritin level, which can point to an iron overload. 

There are several gene mutations that can cause Hemochromatosis.  The most common mutation in the United States causes about 85% of Hemochromatosis.  There is a genetic test for the most common type of Hemochromatosis.  Only some people who test positive on this test will actually become ill from this disease.  The other 15% of the people with symptomatic Hemochromatosis will have mutations not in the HFE gene but in other genes that may be unknown or for which testing is unavailable.  If the disorder is not found with testing, a liver biopsy may be needed to confirm whether or not symptomatic Hemochromatosis exists or is possibly developing.

-Apostolos Psychogios, MD, FACMG