Hemochromatosis Research

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About Hemochromatosis

Hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in organs and damages them. Without treatment, the disease can cause these organs to fail.

Healthy people usually absorb about 10 percent of the iron contained in the food they eat to meet the body needs. People with hemochromatosis absorb more than the body needs. The body has no natural way to rid itself of the excess iron, so it is stored in body tissues, especially the liver, heart, and pancreas.

Causes

Genetic or hereditary hemochromatosis is mainly associated with a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food. There are two known important mutations in HFE, named C282Y and H63D. C282Y is the most important.

When C282Y is inherited from both parents, iron is overabsorbed from the diet and hemochromatosis can result. H63D usually causes little increase in iron absorption, but a person with H63D from one parent and C282Y from the other may rarely develop hemochromatosis.

The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. A person who inherits the defective gene from both parents may develop hemochromatosis. A person who inherits the defective gene from only one parent is a carrier for the disease but usually does not develop it. However, carriers might have a slight increase in iron absorption.

Symptoms

Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. Symptoms tend to occur in men between the ages of 30 and 50 and in women over age 50. However, many people have no symptoms when they are diagnosed.

If the disease is not detected early and treated, iron may accumulate in body tissues and may eventually lead to serious problems such as

arthritis
liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
damage to the pancreas, possibly causing diabetes
heart abnormalities, such as irregular heart rhythms or congestive heart failure
impotence
early menopause
abnormal pigmentation of the skin, making it look gray or bronze
thyroid deficiency
damage to the adrenal gland

Diagnosis

A thorough medical history, a physical examination, and routine blood tests help rule out other conditions that could be causing the symptoms. This information often provides helpful clues, such as a family history of arthritis or unexplained liver disease.

Hemochromatosis is often undiagnosed and untreated. It is considered rare and doctors may not think to test for it. The initial symptoms can be diverse and vague and can mimic the symptoms of many other diseases. Also, doctors may focus on the conditions caused by hemochromatosis—arthritis, liver disease, heart disease, or diabetes—rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life.

Treatment

Treatment is simple, inexpensive, and safe. The first step is to rid the body of excess iron. The process is called phlebotomy, which means removing blood the same way it is drawn from donors at blood banks. Depending on how severe the iron overload is, a pint of blood will be taken once or twice a week for several months to a year, and occasionally longer.

Blood ferritin levels will be tested periodically to monitor iron levels. The goal is to bring blood ferritin levels to the low end of normal and keep them there. Depending on the lab, that means 25 to 50 micrograms of ferritin per liter of serum. Depending on the amount of iron overload at diagnosis, reaching normal levels can take many phlebotomies.

Once iron levels return to normal, maintenance therapy, which involves giving a pint of blood every 2 to 4 months for life, begins. Some people may need it more often. An annual blood ferritin test will help determine how often blood should be removed.

References for Hemochromatosis Article

National Digestive Diseases Information Clearinghouse

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