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What Is Hereditary Hemochromatosis?

Aug 18, 2007
Hereditary Hemochromatosis is an inherited disease which causes the body to absorb and store too much iron. This excess iron is stored throughout the body, but particularly in the liver, skin and pancreas. When this iron is stored, the iron damages these organs and tissues.

HH is caused by mutations found in the HFE gene. This genes responsibility is to control the iron absorption from the diet. When a person inherits the defective gene from both parents, he or she will develop Hereditary Hemochromatosis. If a person in inherits the defective genre from one parent and not the other, this person is a considered a HH carrier. HH carriers do have a slight increase in their absorption of iron.

Most people who have HH have no symptoms of the disorder until they reach middle age. This is because the body only absorbs a small amount more then what it needs every day. This takes time to build up and cause symptoms.

Some of the most common symptoms of HH are bronzing or a grey appearance in the skin. The symptoms are painful joints, diabetes, liver disorders and a weakened cardiovascular system. Other signs of Hereditary Hemochromatosis include diminished sex drive, early menopause, thyroid and adrenal disorders and fatigue.

HH often goes undiagnosed for years because the blood tests are not performed. There are four tests which should be performed for diagnosing the disease. The Serum Ferritin test will measure the level of iron stored in the liver. The Liver Biopsy will take a liver sample from a needle for testing. The Transferrin Saturation Test measures the amount of iron that is bound to protein carried in the blood. The best test is Molecular Genetic Testing. The DNA testing for the Mutated HFE genes is now possible. This test too is not 100% accurate as it is possible for a mutant genre to produce a false negative test result.

The best treatment for HH is a phlebotomy, giving blood. This blood is not given to the Red Cross as it is considered too high in iron. Often blood is taken once or twice a week for an amount of time to lower the iron levels. Once the iron levels are at a normal level, it is necessary to remove a pint of blood every month to four months. Ferritin testing will let your doctor know how often blood should be taken.

Some practices to implement to protect yourself if you have HH is to be sure to not take iron supplements, not even a multivitamin with a little iron in it. It is often recommended to avoid vitamin C supplements as C increases the absorption of iron. Eating red meat should be avoided as red meat is high in iron. Limit your alcohol consumption as alcohol and high iron levels damages the liver at an increased rate. If you are not sure how much alcohol you can consume consult your doctor.

Everyone who a relative who has HH should be tested to for the disorder. If you are tested negative, you still should be tested every few years as the condition often takes time to show up on a test.
Early diagnosing and treatment are critical for the long term health of a person with HH. If you are diagnosed before liver damage or diabetes, you should have a normal life expectancy.
About the Author
The author recommends visiting HH Blood to learn more about this disease.
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