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Why You Need to Check for Hemochromatosis and Iron Overload


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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.

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

It is estimated that about 5% of cirrhosis cases are caused by hereditary hemochromatosis. Patients who have cirrhosis due to hereditary hemochromatosis have a 20% chance of developing diabetes. Cirrhosis can cause a number of complications and can ultimately lead to liver failure or death. People with cirrhosis are also at increased risk for developing liver cancer. Liver disease is often worse in people with hereditary hemochromatosis 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 of hemochromatosis begin to occur when the body has stored 20 grams or more of iron, which can take 4 to 6 decades. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50, although some people may develop problems by age 20. Since females lose iron through menstrual blood loss, on average, they will develop organ damage from iron accumulation 15 to 20 years later than men.

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

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 routine, but life-long. Treatment is by removing blood (phlebotomy) from the patient in order to lower the level of iron. There is an initial de-ironing phase, where the patients have frequent phlebotomy until the iron stores are depleted. In this initial stage, half a litre of blood may be removed from the body each week. When the iron levels are normal, treatment may only be several times a year. Treatment, if begun in time, will return the patient to a normal life span and reverse most if not all of the symptoms.

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 from hemochromatosis. This worldwide genetic disorder has a high incidence in populations of Northern European origins. It is important that you get tested if you have a family history of the disease. Fortunately with increased awareness this is now happening. It is important to diagnose hemochromatosis early as it can be treated easily.
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