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Hemochromatosis case study

Extra credit for BIOC 460 Final

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Hemochromatosis case study

  1. 1. Extra Credit Case Study Emily Rada
  2. 2. Patient’s Condition A male patient comes into the clinic complaining of a lack of energy and abdominal pain. After doing an ultrasound on his abdomen, the test showed that he had an enlarged liver and an enlarged spleen. You couldn’t help but notice that his skin was an odd shade of bronze.
  3. 3. What test would you order next to determine a diagnosis?
  4. 4. What is an Iron Panel Test? An iron panel test is a blood test which needs to run three tests in order to come to the diagnosis. The panel test will test serum ferritin, Total iron binding capacity, and serum iron.
  5. 5. Test results The Iron blood test came back with results of over 45% Serum transferrin saturation and elevated serum ferritin levels.
  6. 6. Diagnosis: Hemochromatosis Hemochromatosis is characterized by elevated iron levels in the body. The body is able to absorb 4 times more iron than normal, however, it is unable to get rid of the excess iron. One out of 200- 300 people in the United States suffer from Hemochromatosis
  7. 7. Problem With increased iron levels, the body tries to increase iron deposits all over they body in joints, organs and skin.
  8. 8. Genetic Causes C282Y, H63D, and S65C are the top three mutations on the HFE gene. The HFE gene regulates iron levels in the body. Hemochromatosis only occurs in people who have inherited the mutated gene from both parents. People who only have one form of the mutated gene, will only be a carrier.
  9. 9. Transferrin Transferrin is a protein which binds to iron and deposits it in cells to mediate iron uptake. HFE protein associates with the transferrin receptors and prevents the receiving cell from absorbing transferring when still bound to iron. If mutated, HFE is unable to facilitate this process due to the changed folding conformation.
  10. 10. Treatment • Low iron diet • Blood donation multiple times a month (this type of blood donation requires a prescription form a doctor)
  11. 11. References • Bridges, MD Kenneth R. "Effects of Hemochromatosis." Effects of Hemochromatosis. N.p., n.d. Web. 15 Dec. 2016. • "Hemochromatosis." American Diabetes Association. N.p., n.d. Web. 15 Dec. 2016. • Mayo Clinic Staff Print. "Hemochromatosis." Treatment - Hemochromatosis - Mayo Clinic. N.p., 22 Dec. 2015. Web. 15 Dec. 2016. • "Welcome." - An Education Website for Hemochromatosis and Too Much Iron. N.p., n.d. Web. 15 Dec. 2016.

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  • VijayKumar4653

    Jul. 1, 2019

Extra credit for BIOC 460 Final


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