Hemochromatosis is the most common genetic disease in the United States. It is known as the iron overload disease and affects children and adults. Iron is an essential element for good health. A healthy individual absorbs 10 percent of dietary iron. Hemochromatosis causes the body to absorb and store excessive amounts of iron. A person with hemochromatosis absorbs 30 percent of dietary iron. The extra iron accumulates in the organs of the body. The result is heart, liver, and pancreas failure. The most serious form of hemochromatosis is neonatal hemochromatosis. The iron accumulates so quickly in the liver that the baby is still born or dies within a few days of birth.
People with a family history of this genetic disease or who carry a mutated HFE gene are at risk for developing hemochromatosis. It is more common in people of Northern European descent than in Afro-Americans, Hispanics, and Asian-Americans.
The symptoms of hemochromatosis appear between the ages of 30 and 50 in men and after the age of 50 in women. Women lose iron during menstruation and pregnancy. This diminishes the possibility of excessive iron storage. However, after menopause or a hysterectomy, a woman’s risk for displaying symptoms increases. With juvenile hemochromatosis, symptoms appear between the ages of 15 and 30.
The most common symptom of hemochromatosis is joint pain. Fatigue, loss of energy, abdominal pain, and a loss of sex drive are symptoms that will cause a person to seek medical attention. Some individuals may not have symptoms at the time of diagnosis. A medical history, physical examination, and routine blood test help the physician diagnosis this disease. Blood tests indicate if the person is storing too much iron. Further testing to check how the blood transports iron and measure the level of iron in the liver are done. A liver biopsy is done. A sample of liver tissue is examined to determine how much iron has accumulated and if there is liver damage.
Hemochromatosis is treated by the removal of a pint of blood either once or twice a week. This treatment can last for several months depending on the severity of the iron overload.