Monday, December 12, 2011

Hemochromatosis

        Hemochromatosis is a disorder which causes the body to absorb too much iron from the person's diet. Hemochromatosis is an autosomal recessive disorder, which means that the person can only inherit the disorder if they inherit the abnormal (recessive) gene from both parents. There are two genetic mutations associated with hemochromatosis; C282Y and H63D. The numbers 282 and 63 label the place of the defects of the HFE gene located on chromosome number 6.
        People with hemochromatosis have no symptoms at a young age and have no idea that they have the disorder. Symptoms may not appear until the person is in their forties or fifties. Iron deposits in the skin cause the skin to become darker and look slightly orange. There is also an elevated level of iron in the blood. Iron deposits in the pancreas result in a decrease of the production of insulin causing diabetes mellitus. Iron deposits in the heart muscle can cause heart failure and abnormal rhythms of the heart. Iron deposits in the liver can cause scarring of the liver and an increased risk of liver cancer.
        Most people with hemochromatosis are diagnosed at an early age and show no symptoms. The disorder us detected when elevated levels of iron in the blood are found in blood testing.
        The most common and most effective treatment for hemochromatosis reduces the level of iron in the body. This treatment is called phlebotomy and in this treatment blood is withdrawn from the veins in the person's arm. Usually, the person goes in every one or two weeks to withdraw one unit of blood, which has 250 mg of iron in it. Chelation therapy uses chemical compounds and proteins from the body to remove toxic metal molecules from the blood. Also, a diet with lots of vitamin C can help absorb some of the iron in the blood. Fruits and vegetables are good for the diet and too much red meat should be avoided.
        Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about one million people. It mostly affects people of Northern European descent. All other types of hemochromatosis is very rare; only a small number of people are affected with hemochromatosis (not type 1) worldwide.
        Most people affected with hemochromatosis life the average life expectancy.

                                                                           


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Iron is contained in red blood cells.







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