Hereditory Hemochromatosis

            Hereditary Hemochromatosis: An Iron Overload Disease
             Hemochromatosis is caused by a defect in the gene called HFE, which regulates the amount of iron absorbed from food. Particularly, two mutations, called C282Y and H63D, cause the abnormal metabolism of the iron. People with the disease have inherited a defective gene from each parent. If a person inherits the defective gene from only one parent he/she is a carrier but does not develop it. However, carriers might have an increase in iron absorption. Hemochromatosis is mostly found in Caucasians of Northern European decent. Both men and woman are affected but men are more likely to develop problems at younger age.
             The defect is present at birth but symptoms do not appear until adulthood with hereditary hemochromatosis. The disease causes the body to absorb and store too much iron, which builds up in the organs and damages them. Iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues. With this defect, the body has no way to get rid of the excess iron so it stores it in the body tissues, especially the liver, heart and pancreas. Symptoms often include joint pain, fatigue, and lack of energy, abdominal pain, loss of sex drive, depression, shortness of breath, weight loss, and heart problems. If not detected and treated right away it will lead to more serious problems like arthritis, liver disease (enlarged liver, hepatitis, cirrhosis, cancer, or liver failure), impotence, early menopause, abnormal pigmentation of the skin (gray or bronze), damage to the pancreas (causing diabetes), thyroid deficiency, heart failure, or damage to the adrenal gland.
             There is no cure for this disease but there is one treatment called phlebotomy, which is the removing of blood. For those with the disease this means taking one pint of blood once or twice a month for several months to a year. After this the blood ferritin levels will ...

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Hereditory Hemochromatosis. (2000, January 01). In MegaEssays.com. Retrieved 07:32, April 19, 2024, from https://www.megaessays.com/viewpaper/89506.html