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Hemochromatosis

Hemochromatosis is a disorder that interferes with iron metabolism, which results in the excessive accumulation of iron in the body. This abnormal buildup of iron is toxic to the body and can cause damage to the organs. Hereditary hemochromatosis is one of the most common genetic disorders in the United States. It is estimated that one out of 200 to 300 individuals are affected. Hemochromatosis is more common in Caucasians of European descent.

Causes

There are two main causes of hemochromatosis: primary (hereditary) or secondary. Primary hemochromatosis is inherited as a homozygous-recessive genetic disorder. An individual who inherits the defective gene from both parents may develop hemochromatosis. Not all individuals who inherit both defective genes will develop manifestations of hemochromatosis. The carrier state, individual with one copy of the defective gene, is estimated to be one out of every nine individuals. The gene affected is called HFE, which is located on chromosome 6. The HFE gene codes for a molecule that regulates the intestinal absorption of dietary iron. The body closely regulates and balances the amount of iron absorbed in the intestines with the amount of iron lost daily. When two copies of the defective HFE gene are inherited, the result is abnormal regulation of intestinal absorption of dietary iron. This leads to excess accumulation of iron in the body. Secondary hemochromatosis is usually due to an underlying disease or condition; it can also be due to blood transfusions. Hemolytic anemias such as thalassemia or sideroblastic anemia are the most common cause of secondary hemochromatosis. Blood transfusions to manage aplastic anemia and sickle cell disease can also lead to iron overload.

Clinical Symptoms

The symptoms of hemochromatosis usually appear between ages 30 and 50 and are more frequent in males. Males present symptoms at an earlier age than females because of the physiologic iron loss during menstruation and pregnancy. Principal clinical manifestations include abdominal pain, fatigue, darkening of the skin pigmentation, joint pain, testicular atrophy, and loss of sexual desire. Hemochromatosis causes a buildup of iron in the body, especially in the liver, heart, and pancreas. Hemochromatosis can lead to liver enlargement, cirrhosis (scarring of the liver causing dysfunction), liver failure, or cancer of the liver (hepatocellular carcinoma). Iron buildup in cardiac tissue can cause irregular heart rate or rhythm (arrhythmia) and lead to heart failure. Hemochromatosis can cause damage to the pancreas and lead to diabetes mellitus.

Screening and Treatment

Screening for hemochromatosis involves blood tests to evaluate serum iron levels and ferritin levels. Screening family members is important for primary hemochromatosis. Treatment is necessary to remove the excess iron in the body and to prevent organ damage from toxic levels of iron. Patients are treated by phlebotomy (removal of blood).

  • hemochromatosis
Angela J.Garner, MD, Melissa Meiners University of Missouri-Kansas City
http://dx.doi.org/10.4135/9781412963855.n565
See Also:

Bibliography

Centers for Disease Control and Prevention, “Hemochromatosis,”http://www.cdc.gov (cited April 25, 2007)
“Hemochromatosis,”ADAM Medical Encyclopedia, http://www.nlm.nih.gov/medlineplus (cited April 25, 2007)
V.Kumar, A. K.Abbas, and N.Fausto, Robbins and Coltran Pathologic Basis of Disease, 7th ed. (Saunders, 2005)
National Institutes of Health, National Heart, Lung, and Blood Institute,

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