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Why You Need to Check for Hemochromatosis and Iron Overload


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By: Peter Whittington

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

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.

5% of cirrhosis cases are estimated to be caused by hereditary hemochromatosis. 20% of patients who have cirrhosis due to hereditary hemochromatosis have a chance of developing diabetes. Cirrhosis can also cause a number of complications that can ultimately lead to liver failure, death or an increased risk of developing liver cancer. Liver disease is often worse in hemochromatosis sufferers who also have chronic hepatitis or are alcoholics.

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.

Because the initial symptoms can be diverse, vague and mimic the symptoms of many other diseases, patients with early hemochromatosis do not exhibit any symptoms. Many people are totally unaware of their condition because they have no symptoms when they are diagnosed.

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.

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

There are two forms of the disease that are not caused by an HFE defect, juvenile hemochromatosis and neonatal hemochromatosis. Adolescents and young adults between the ages of 15 and 30 can suffer from the juvenile form. It leads to severe iron overload and liver and heart disease. The neonatal form causes rapid iron build-up in an infant's liver which can lead to death.

Hereditary hemochromatosis treatment is life-long. It is done by phlebotomy (removing blood) from the patient in order to lower the level of iron. During the initial de-ironing phase when the iron levels have to be reduced to normal, the patients have frequent phlebotomy until the iron stores are depleted. When the iron levels return to normal, treatment may only be several times a year. If treatment is begun in time, the patient will return to a normal life span and most if not all of the symptoms will be reversed.

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.

Information about the Author:

Hemochromatosis -Too much iron is destroying the health of millions. Most people, including physicians, are unaware of this disease. For more Iron Overload Information, visit Dr Chris Whittington's site.

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