GENETIC LIVER DISEASES
Hemochromatosis
What is it?
Hemochromatosis is a common inherited disorder of iron metabolism that results in absorption of too much iron from an ordinary diet. This can lead to the development of cirrhosis and cancer of the liver.
How is it contracted?
Hemochromatosis is a common inherited disorder of iron metabolism that results in absorption of too much iron from an ordinary diet. This can lead to the development of cirrhosis and cancer of the liver.
What are the symptoms?
Symptoms include chronic fatigue, joint pain, impotence, irregular menstrual cycles, hair loss, abdominal pain/swelling, weight loss, frequent colds and infections, skin pigmentation, diabetes, and headaches. Many people have no symptoms.
How is it treated?
The treatment for hemochromatosis is simple and effective: bloodletting or “phlebotomy.” It is identical to a blood donation, and the duration of weekly treatments is determined by the iron levels in the blood as measured by serum ferritin level. Periodic phlebotomy should be maintained for the patient’s life to maintain an iron depleted state. In the case of “acquired hemochromatosis,” once deironed, the treatments can be stopped permanently.
How prevalent is hemochromatosis?
Approximately 1.5 million in the US are affected by iron overload diseases, primarily caused by hemochromatosis.
BGenetic testing is now available to help identify those with the common type of hemochromatosis. In addition, a simple test of the amount of iron in a blood sample can identify those at risk for hemochromatosis.
(updated October 2005)