Hereditary hemochromatosis is a genetic disease that causes the body to absorb excessive iron from the diet, resulting in a build-up of too much iron in the skin, heart, liver, pancreas, pituitary gland, and joints. This disease is of particular interest to me because the genetic and molecular detail behind the cause has drastically changed over the last 150 years, and I hope to highlight some of the key ideas in my disease project. After thoroughly examining an immense amount of research that is available on this disease, I plan to organize this review into the following themes: the identification and characterization of hereditary hemochromatosis, the molecular detail of hereditary hemochromatosis, and prevention and treatment of hereditary hemochromatosis.

  1. The identification and characterization of hereditary hemochromatosis:
    • Through the work of von Recklinghausen in 1889, iron was identified as the cause of hemochromatosis. The characterization of the disease is best explained through earlier works by Sprunt in 1911, Sheldon in 1935, and Laufberger in 1937. These works helped to set up the basics of the disease, and I hope to expand upon the way the characterization has evolved into the present day by explaining the different proposed causes of the disease over the years through pathophysiological explorations.  
  2. The molecular detail of hereditary hemochromatosis
    • The molecular findings of the disease help to elucidate its effects. In 2000, Bennett et. al. identified the structure of the mutated protein in this disease. The HFE protein complexed with transferrin receptor (TFR) is affected in hemochromatosis, and this paper served as a starting point for all future work. The identification of the protein is further explored, and is necessary to know, in order to understand the role of hepcidin. I plan to demonstrate how all of the work done on the molecular details of identifying the mutated protein and hepcidin come together to further explain the effects of the disease.
  3. The prevention and treatment of hereditary hemochromatosis
    • Highlighting the measures that can be taken in order to prevent hemochromatosis is important to discuss. Genetic and serum testing are techniques can be used to detect hemochromatosis in its early stages. Understanding the role of hepcidin in hemochromatosis is essential in providing treatment for the disease. Using the works of Ruchala et. al. in 2014, Zoller et. al. in 2016, and Kawabata et. al. in 2018, I will show how targeting hepcidin expression has aided in providing relief from hemochromatosis.

I hope to integrate this literature review that I have conducted along with all of the information I have found outlining the characteristics of hereditary hemochromatosis in order to provide a better understanding of the biochemistry behind this disease. Utilizing these themes, I will organize this information to allow my peers and non-experts to have a better understanding of hereditary hemochromatosis.

  1. Ulvik, R. J. Hereditary Haemochromatosis through 150 Years. Tidsskrift for Den norske legeforening 2016.
  2. Bennett, M. J.; Lebrón, J. A.; Bjorkman, P. J. Crystal Structure of the Hereditary Haemochromatosis Protein HFE Complexed with Transferrin Receptor. Nature 2000, 403 (6765), 46–53.
  3. Ruchala, P.; Nemeth, E. The Pathophysiology and Pharmacology of Hepcidin. Trends in Pharmacological Sciences 2014, 35 (3), 155–161.
  4. Zoller, H.; Henninger, B. Pathogenesis, Diagnosis and Treatment of Hemochromatosis. DDI 2016, 34 (4), 364–373.
  5. Kawabata, H. The Mechanisms of Systemic Iron Homeostasis and Etiology, Diagnosis, and Treatment of Hereditary Hemochromatosis. International Journal of Hematology 2018, 107 (1), 31–43.



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June 2021
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