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  1. 1. HereditaryHemochromatosis Zane Kaminski
  2. 2. What is hemochromatosis? It’s a condition that causes dangerously high levels of iron build up in the body.
  3. 3. What is hemochromatosis? It’s present in approximately 4.5 out of 1000 individuals, but much more frequently in men.
  4. 4. What is hemochromatosis?If untreated, it can lead to organ failure or even death!
  5. 5. Phases of Hemochromatosis Early Stage Late Stage
  6. 6. Phases of Hemochromatosis Early Stage Late Stage
  7. 7. Phases of Hemochromatosis Early Stage Late Stage
  8. 8. Symptoms ofHemochromatosisEarly Stage Late Stage Fatigue  Arthritis Joint pain  Liver disease Abdominal pain  Diabetes Loss of libido  Heart abnormalities  Skin discoloration  Organ Failure
  9. 9. Genetic Basis The specific genetic cause of hereditaryhemochromatosis are the C282Y mutation, and another similar H63D mutation, both in the human HFE gene.
  10. 10. Genetic BasisThe mutation that causes hemochromatosis is inherited in a homozygous recessive manner, meaning that heterozygotes, while they do not have hemochromatosis, serve as carriers for the disease.
  11. 11. Genetic BasisHemochromatosis is incompletely dominant, meaning that heterozygotes do have higher blood iron levels than homozygotes, but not dangerously so.
  12. 12. TreatmentTreatment is relatively simple and straightforward, andconsists of regular phlebotomies, or removal of blood.
  13. 13. Treatment This serves to reduce iron levels in the body and bloodstream.
  14. 14. TreatmentIf treatment for hemochromatosis is sought promptly,affected individuals can lead completely normal lives!
  15. 15. Cycle of Treatment High iron levels necessitate a phlebotomy. Regular Iron levels rise. phlebotomies are performed. Iron levels Blood iron levels eventually decrease. become normal.
  16. 16. Summary Hemochromatosis is completely treatable. Individuals with the disease, if they seek help promptly, can live totally normal lives. However, those who do not may suffer organ damage, etc. Hemochromatosis is inherited in an autosomal recessive manner. Not all individuals with the homozygous recessive genotype have the disease, however! Treatment consists of regular phlebotomies.
  17. 17. ReferencesCenter for Disease Control and Prevention. (2010, September 3). Hemochromatosis (Iron Storage Disease). Retrieved July 25, 2012, from Center for Disease Control and Prevention: Tests Online. (2011, July 12). TIBC & UIBC, Transferrin. Retrieved July 25, 2012, from Lab Tests Online:, S. (2007). Survival of the Sickest. New York: William Morrow.National Center for Biotechnology Information. (n.d.). Homo Sapiens Hemochromatosis (HFE), transcript variant 1, mRNA. Retrieved July 25, 2012, from, P. D., Sham, R. L., Raubertas, R. F., Dunnigan, K., OLeary, M. T., Braggins, C., & Cappuccio, J. D. (1998, December 1). Prevalence of Hereditary Hemochromatosis in 16031 Primary Care Patients. Annals of Internal Medicine. Retrieved July 25, 2012, from French, J. B. (n.d.). Percent Saturation of Transferrin. Retrieved July 25, 2012, from Cornell University College of Veterinary Medicine: Department of Health and Human Services. (2012, 10 May). Hemochromatosis. Retrieved July 25, 2012, from National Digestive Diseases Information Clearinghouse: