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Be Aware of Hemochromatosis the Iron Overload Disease | Print |  E-mail
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Written by Peter Whittington   
Friday, 25 April 2008
Hemochromatosis gets its name from "hemo" for blood and "chroma" for colour, referring to the characteristic bronze skin tone caused by iron overload. It is a genetic disease that causes the body to absorb and store too much iron. Skin tone is not a reliable indicator for hemochromatosis as many sufferers do not exhibit the bronze colouration.
by PeterWhittington


Hemochromatosis gets its name from "hemo" for blood and "chroma" for colour, referring to the characteristic bronze skin tone caused by iron overload. It is a genetic disease that causes the body to absorb and store too much iron. Skin tone is not a reliable indicator for hemochromatosis as many sufferers do not exhibit the bronze colouration.

The disease causes excess iron storage in several organs of the body including the liver, heart, skin, pancreas, endocrine glands, joints, and intestinal lining. This iron build-up can lead to serious complications. Hemochromatosis is associated with reduced life span, hepatic cirrhosis, primary liver cancer, diabetes mellitus, other endocrinopathy, arthropathy and cardiomyopathy.

It is believed that hemochromatosis causes about 5% of cirrhosis cases. These patients who have hereditary hemochromatosis induced cirrhosis have a 20% chance of developing diabetes. A number of complications can result from cirrhosis and it can ultimately lead to developing liver cancer, liver failure or death. People with hereditary hemochromatosis who also have chronic hepatitis or are alcoholics may have greater complications and worse liver disease.

Because hemochromatosis is considered rare, doctors may not think to test for it so it is often undiagnosed and untreated. If it is detected early, hemochromatosis is manageable. However, by the time symptoms become evident, severe organ damage will have occurred. As symptoms develop only after tissue injury, to diagnosis hemochromatosis before symptoms develop.

Patients with early hemochromatosis have no symptoms and are unaware of their condition. Many people have no symptoms when they are diagnosed. The initial symptoms can be diverse, vague and mimic the symptoms of many other diseases.

Symptoms are often exhibited by men between the ages of 30 and 50 and in women over 50, but some patients may develop problems as early as 20. When the body has stored 20 grams or more of iron, symptoms of hemochromatosis become evident. This may take up 4 to 6 decades. As females lose iron through menstrual blood loss, they develop organ damage from iron accumulation 15 to 20 years later than men on average.

However, hereditary hemochromatosis should not be considered a disease of older people or men. Iron build-up is often present and silently causing problems long before symptoms occur, in men, women, adolescents, and in rare cases, children.

While hemochromatosis is usually caused by a HFE defect, juvenile hemochromatosis and neonatal hemochromatosis are two forms of the disease that are not. The juvenile form causes liver and heart disease and severe iron overload in young adults and adolescents between the ages of 15 and 30. The neonatal form causes rapid iron build-up in a baby's liver which can lead to death.

Treatment for hereditary hemochromatosis is by removing blood (phlebotomy) from the patient in order to lower the level of iron. Initially, there is a de-ironing phase, where the patients frequently have phlebotomy until the iron stores are normalised. During this initial stage, up to half a litre of blood may be removed from the body each week. After normalisation, treatment may only be several times a year. Treatment, if begun early enough, will reverse most if not all of the symptoms and return the patient to a normal life span. Treatment is life-long.

Hemochromatosis is a worldwide genetic disorder that occurs especially in populations of Northern European origins with about 1 in 10 people carrying the defective gene. With 1 in 10 of the population being a carrier, and 1 in every 200 to 300 being a sufferer, a significant percentage of the population is at risk. If you have a family history of the disease, it is important that you get tested. It is important to diagnose hemochromatosis early as it can be treated easily. Fortunately with increased awareness this is now happening.

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