What is Hemochromatosis?

Hemochromatosis is a form of iron overload disease in the body; in fact it is the most common form. It can be primary hemochromatosis, which is inherited, or secondary hemochromatosis, which is caused by disorders, alcoholism, or anemia. Additional distinctions are neonatal hemochromatosis if a baby and juvenile hemochromatosis if an adolescent. Instead of a normal 10 percent iron absorption from food, these people absorb 30 percent.

Symptoms

Symptoms of hemochromatosis include joint pain, lack of energy, fatigue, loss of sex drive, abdominal pain, and heart problems. More serious symptoms include arthritis, liver disease, pancreatic damage, heart abnormalities, impotence, early menopause, adrenal gland damage, thyroid deficiency, and an abnormal pigmentation of the skin.

Diagnosis

With a physical exam and a medical history, the doctor will take some blood tests to rule out some other conditions to make this diagnosis. There is the transferring saturation test that shows how much of the iron is bound to the protein in the blood that carries iron. If this test is over 45 percent it is too high.

A liver biopsy can be done in which there is a small section of tissue removed from the liver. This tissue is examined to see how much iron has been building up in the liver and if the liver is damaged. This test can help see how extensive the liver has been affected.

Treatment

To rid the body of iron excess is called a phlebotomy. A pint of blood is taken once or twice a week. This can last several months to a year. It is monitored for its iron level, once the iron levels are at a more normal amount, a maintenance therapy is done which means a pint of blood given every two to four months. Organ damage can be prevented if the treatment is begun prior to it. The degree of organ damage will alter the prognosis for the people with hemochromatosis. Cirrhosis, for example, increases liver cancer chances.

Source: The National Digestive Diseases Information Clearinghouse (NDDIC) NIH Publication No. 07-4621


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