Hemochromatosis, a condition that causes the body to absorb and store too much iron, is a common inherited disorder. Yet many cases go undiagnosed, because neither patients nor physicians have been alerted to this problem. The American Liver Foundation is working to increase awareness of this iron overload disease, because hemochromatosis can be treated effectively if detected in time.

How Common Is Hemochromatosis?

From studies in Europe, Australia and the United States, it is estimated that hemochromatosis affects approximately one in every 250 – 300 people; the carrier rate (heterozygote) affects 1 in 10.

What Are The Symptoms?

Many people have no symptoms in advanced cases. Damage to the liver can slowly lead to cirrhosis if the illness is not treated. A bronze discoloration of the skin is often a sign that hemochromatosis is present. Damage to the pancreas can result in a severe form of diabetes mellitus. Damage to other organs may cause arthritis, heart problems, impotence and chronic fatigue. The wide range of symptoms, varying from individual to individual, makes diagnosis difficult.

Are There Special Tests For Iron Overload?

Blood tests for serum iron and either total iron binding capacity (TIBC) or transferrin are good screening devices. They can be included in standard blood panel tests. The ratio of serum iron or transferrin to the TIBC is normally about 0.30 or 30%. Figures above 50% (iron overload) or below 15% (iron deficiency) need more study. A good additional test is serum ferritin level, which is elevated in patients with hemochromatosis. If these tests are persistently high, a liver biopsy should be done to determine the amount of iron stored in the liver and to assess the damage (if any) to the liver.

How Can Hemochromatosis Be Treated?

One to two pints of blood (which is rich in iron) is removed each week until iron stores go down to a normal level. It may take from several months to several years to remove all excess iron. After the iron stores are reduced to normal, the therapy should then be continued every 2 to 4 months for life to prevent re-accumulation of iron.

What Is The Outlook For Patients?

Those who are treated early can look forward to a completely normal active life. When the illness has advanced to the stage of cirrhosis, the situation is more serious. Liver cancers can occur in up to 25% of these patients.

Who Is Most Likely To Get Hemochromatosis?

The gene is inherited from both parents. Hemochromatosis is most often diagnosed between the ages of 40 and 60, but it has been detected in younger and older people. Women frequently develop symptoms at a later age than men since women normally lose significant amounts of iron through menstruation, pregnancy and lactation. Anyone who has a blood relative with hemochromatosis should be tested with the various blood tests for iron mentioned above, even if there are no symptoms.

Does Having Anemia Rule Out Iron Overload?

No. There are many forms of anemia, and it is possible for a person to have both anemia and hemochromatosis.

Is There Any Relationship Between Diet And Iron Overload?

Hemochromatosis is an inherited disease that develops in individuals eating normal diets. Rarely, people have developed iron storage problems after taking heavy amounts of iron tonics and medications over a long period. Anyone with an iron overload problem should avoid taking tonics and medications with iron or eating large quantities of iron-containing foods, such as red meats. A normal, balanced diet is recommended. No one should take iron supplements without a doctor’s advice.

What Effect Does Alcohol Have On Hemochromatosis?

Alcohol seems to intensify the problem. Anyone with a liver problem is advised to abstain from alcohol or have only an occasional drink.

What Needs To Be Done?

Hemochromatosis is a common inherited disease. The most vital factor in making an early diagnosis is enhanced recognition of the disease by both doctors and patients. This is particularly important, since early diagnosis and prompt treatment can prevent all of the long term complications of the disease. The American Liver Foundation recognizes the importance of educating people about hemochromatosis and other liver diseases.