Hemochromatosis -- many have never heard of this disease, much less know of its' prevelance. Hemochromatosis (also known as hereditary hemochromatosis or HHC) is an inherited disorder that causes the body to absorb and store too much iron.

It affects approximately one in three hundred people in the United States, making it by far the most common genetic disorder. Because one in nine people are a carrier, it can be passed to future generations unknowingly.

What is it?

Hemochromatosis is a disorder in which the body absorbs three to four times more iron from food than normal. In people without the genetic defect, any extra iron in the body would normally be excreted. But in hemochromatosis, the excess iron is stored throughout the body, including in the pancreas, liver, skin, and heart.

Hemochromatosis A disorder of iron metabolism that occurs usually in males and that is characterized by a bronze color of the skin due to deposition of iron-containing pigments in the tissues and frequently by diabetes and weakness.

Hereditary hemochromatosis can cause serious and sometimes fatal health problems as the iron accumulates in the body, causing damage to the organs and tissues. Some conditions or diseases caused or made worse by high levels of iron accumulating in the body are arthritis, cirrhosis of the liver, diabetes, heart failure, and liver cancer.

How does one get it?

Everyone has two copies of the gene that controls the storage of iron. If there are mutations in both genes, then the result is hemochromatosis. If there is one good copy of the gene and one defective gene then the person is a carrier.

What are the signs and symptoms?

One can suffer from iron overload for years before any problems develop. That's because symptoms of hemochromatosis most often do not appear until about age 40 to 60, during the later stages of the disease. If you wait until there are symptoms, and organs have already been damaged, it can be too late.

But if the condition is identified and treated early, a person can have a normal life expectancy. Signs and symptoms when they do appear, reflect those of the organs and tissues damaged. For example, symptoms may include fatigue, abdominal pain, jaundice, and a change in skin color to bronze or gray.

Because men are eight times more likely to show symptoms of the disease, it was thought that hemochromatosis was rare in women. The genetic information of the disease is carried on non-sex chromosomes and should affect men and women at the same rate.

Actually, women are equally at risk for the disorder, but blood loss during menstruation protects women, countering the effects of excess iron absorption. After menopause, women with the disease begin to have symptoms at the same rate as men.

How is it diagnosed?

Since there may be no symptoms until the disease has progressed, the most common way to identify hemochromatosis is through blood tests that measure iron levels, such as serum iron, total iron binding capacity (TIBC), transferrin, and the transferring saturation test. If these tests show high iron levels, a liver biopsy may be done to determine the amount of iron stored in the liver and to assess liver damage.

How is it treated?

Treatment for hemochromatosis usually begins with regular blood draws (of about one unit or pint of blood) to remove excess iron stores from the body and keep it from building up in organs. These phlebotomies are done up to two times a week until blood iron levels return to normal.

After that, blood is drawn once every few months for the rest of the person's life in order to keep iron levels normal. People are also advised to avoid foods high in iron, iron supplements, and vitamin C supplements as these can increase iron absorption into the body.

Up until recently it was thought that being a carrier of the mutated gene did not cause medical problems, because there was still one gene that functioned. But two large studies showed that carrying a copy of the defective gene puts both men and women at higher risk of dying from heart disease, compared to carrying two copies of the normal gene. Carriers of the altered gene often have slightly elevated iron levels, but it is thought that even a small increase in iron stores is a risk factor for early heart attacks.

Doctors are just beginning to understand hemochromatosis and how genes cause diseases. Most recently a test for the hemachromatosis gene has been developed, which makes early diagnosis much easier. If a person has two copies of the mutation it does not mean they will necessarily have symptoms of the disease.

How the disease is expressed depends in part on how much iron is consumed and retained in the body, and that varies from person to person. People who might be at an increased risk because members of their family have been affected might benefit from genetic testing.

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