HFE gene.edited.docx - Ogbomoh 1 Nicole Ogbomoh CHEM 6640...

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Ogbomoh 1 Nicole Ogbomoh CHEM 6640 Dr. Weber, Dr. Harrison HFE Gene The purpose of the HFE gene is to instruct the production of proteins located on the surface of liver or intestinal cells. The HFE proteins are used to interact with other proteins to maintain the homeostasis of iron in the body. Transferrin receptors’ and hepcidin’s interactions with HFE protein are the common regulatory hormone; however, the molecular mechanics between transferrin receptors and HFE proteins are still unclear. The hepcidin, though, helps determine the amount of iron absorbed and released. If all the proteins involved perform correctly, then the absorption of iron will always be tightly regulated. If not, the lack of control over iron could be contributed to mutations found in the HFE gene. (Fleming, 2009) Researchers have discovered more than 20 mutations in the HFE gene to form a genetic disorder called hereditary hemochromatosis. Hereditary hemochromatosis causes the body to absorb high concentration of iron from the individual's diet. Even though the excess amount of iron can be stored in the skin, heart, liver, pancreas, and joints; however, the body is not equipped to increase the excretion of iron which can overload and damage the tissues and organs listed above. The appearance and progression of symptoms could include arthritis, liver disease, diabetes, heart abnormalities and skin discoloration which can be worsened by environmental and lifestyle factors. The timing of the symptoms necessarily depends on the type of hereditary hemochromatosis: type 1, type 2, type 3, and type 4. Type 1 is the most common form of hereditary hemochromatosis disorder. If a male were to be diagnosed with Type 1, the symptoms
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Ogbomoh 1 would present themselves between the ages of 40 and 60. A woman usually would show signs
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  • Spring '14
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