Dear Dr. Donohue — You keep mentioning hemochromatosis in your column. What test specifically determines if a patient has this disease? My mother died from hemochromatosis. She lived only 20 months after learning she had liver cirrhosis. Her many doctors couldn't determine why she developed it. Finally, one doctor requested a test that revealed she had hemochromatosis. I do not want to undergo DNA testing, but I do want assurance that my doctor is ordering the proper screening test when I go in for my physical. What testing should our family get?



When the body gets too much iron, bad things happen to many organs. Iron deposits in the liver, and that eventually leads to cirrhosis. It can invade the pancreas to cause diabetes. It can find its way into the heart and bring on heart failure. In the skin, it turns the skin to a bronzed or slate-gray color. Many other organs also are affected. For most of us, this isn't a worry. Our digestive tract has a gauge that stops iron absorption if we have too much already on board. People with hemochromatosis don't have this gauge.

Although hemochromatosis (HE-moe-CROW-muh-TOE-siss) might not be familiar to many people, it's not a rare disorder. It's one of the most common inherited diseases. For the majority of patients, the illness requires inheriting two genes, one from the mother and one from the father. Neither of the parents has any signs of the illness.

For a first-degree relative (parent, child, brother, sister) of a hemochromatosis patient, the recommended test is the gene test, what you call the DNA test. It provides the greatest evidence for the illness. You are a first-degree relative.

For screening other people, two blood tests provide valuable information: transferrin saturation and ferritin. Transferrin is a blood protein that carts iron to places where it's needed, like the bone marrow. Ferritin is another protein that permits iron storage inside cells. Pure iron is too toxic for the cells. Sometimes a liver biopsy is necessary.



Write Dr. Donohue at P.O. Box 536475,

Orlando, Fla. 32853-6475.