Be Aware of Hemochromatosis the Iron Overload Disease
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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 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.
Hemochromatosis can be managed when it detected early but unfortunately, by the time symptoms become evident, severe organ damage has already occurred. As it considered rare, hemochromatosis is often undiagnosed and untreated because doctors may not think to test for it. As symptoms develop only after tissue injury, it is important that diagnosis be made as early as possible.
Many people have no symptoms when they are diagnosed with hemochromatosis and are unaware of their condition. Hemochromatosis symptoms can mimic the symptoms of many other diseases and the initial symptoms of the disease can be diverse and vague.
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.
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.
Hemochromatosis is a worldwide genetic disorder. It occurs especially in populations of Northern European origins with about 1 in 10 people carrying the defective gene. A significant percentage of the population is at risk because 1 in 10 of the population is a carrier. 1 in every 200 to 300 suffers from hemochromatosis. If the disease is in your family, it is important that you get tested. When hemochromatosis is diagnosed early, it can be treated easily. Fortunately with increased awareness this is now happening.
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