What is hemochromatosis?

Hemochromatosis is a disorder that results in too much iron being absorbed from the gastrointestinal tract.

The primary form of the disorder is usually genetic. When those with this genetic condition have too much iron in their diet, the extra iron is absorbed in the gastrointestinal tract. When the iron builds up in the body tissues, particularly the liver, the liver swells. The secondary form of the disorder, also known as acquired hematochromatosis, may be the result of diseases such as thalassemia or sideroblastic anemia, particularly if the individual has received multiple blood transfusions. Other conditions that have been linked to secondary hemochromatosis include hemolytic anemia and chronic alcoholism.

More women than men are affected by hemochromatosis, and it affects whites of western European descent most frequently. Onset occurs in men aged 30 to 50 years and in women aged older than 50 years. Symptoms may develop as early as age 20 years, and those with a family history of the disorder are at an increased risk.

The symptoms of hemochromatosis include abdominal pain, fatigue, generalized darkening of skin color (often referred to as bronzing), joint pain, lack of energy, loss of body hair, loss of sexual desire, weakness and weight loss.

Hemochromatosis may be detected by a physical examination that shows liver and spleen swelling and skin color changes. Blood diagnostic tests include serum ferritin (high), serum iron (high) or percentage of transferrin saturation (high). Other tests include blood sugar (glucose) level, alpha fetoprotein, echocardiogram, electrocardiogram, computed tomography, MRI or ultrasound, or liver function tests. A liver biopsy or phlebotomy also may confirm the disease.

The aim of treatment is twofold: to remove excess iron from the body and treat any organ damage. Phlebotomy is a procedure in which 0.5 L of blood is removed from the body each week until the iron level stabilizes. This may require months or years, and maintenance is often required. Testosterone therapy may be useful for treating loss of testosterone, and associated diabetes, arthritis, liver failure and heart failure should be treated empirically. Those unable to undergo phlebotomy may be prescribed oral chelation therapy with deferoxamine-induced iron depletion oral chelators deferiprone (Ferriprox, ApoPharma) and deferasirox (Exjade, Novartis). This treatment causes the body to expel iron through the urine or stool, and may also be injected.

Liver scarring and damage may occur after prolonged illness. Prevention measures include screening of family members of a person diagnosed and avoiding the following items: iron supplements and multivitamins containing iron, vitamin C supplements, alcohol and raw shellfish.

Additional information about hemochromatosis may be found at these websites:

http://www.mayoclinic.com/health/hemochromatosis/DS00455

http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/

http://www.nhlbi.nih.gov/health/health-topics/topics/hemo/

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001368/