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Hemochromatosis: not so rare.

Hemochromatosis, a condition that causes the body to absorb and store too much iron, is a common genetic error. 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 1 in 3-400 people; the carrier rate (heterozygote) affects 1 in 10.

What are the symptoms?

Many people have no symptoms. In advanced cases, injuries 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 endocrine and 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 total iron binding capacity (TIBC) are good screening devices. They can be included in standard blood panel tests. The normal serum iron level is about 100 and any level over 150 should be investigated further. The normal TIBC level is about 300. The ratio of serum iron 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 followup test is the serum ferritin level. 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 produce results. After the iron stores are reduced to normal, the therapy should then be continued every 2 to 4 months for life. Blood can be donated to a blood bank.

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 percent 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 hereditary 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 either 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.

The American Liver Foundation is the only national voluntary health organization dedicated to fighting all liver diseases through research, education and support groups.

Experts estimate that more than half of all liver diseases could be prevented if people acted upon the knowledge we already have.

Each year more than 25 million Americans are afflicted with liver and gall bladder diseases and more than 27,000 die of cirrhosis. These are few effective treatments for most life-threatening liver diseases, except for liver transplants. Research has recently opened up exciting new paths for investigation, but much more remains to be done to find cures for more than 100 different liver diseases.

Meanwhile, patients and their families must cope with medical, financial and emotional problems.
COPYRIGHT 1991 American Liver Foundation
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Copyright 1991 Gale, Cengage Learning. All rights reserved.

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Publication:Pamphlet by: American Liver Foundation
Article Type:pamphlet
Date:Sep 23, 1991
Previous Article:Your liver lets you live.
Next Article:Diet and your liver.

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