Haemochromatosis

@article{Powell2016Haemochromatosis,
  title={Haemochromatosis},
  author={L. Powell and Rebecca Seckington and Y. Deugnier},
  journal={The Lancet},
  year={2016},
  volume={388},
  pages={706-716}
}
  • L. Powell, Rebecca Seckington, Y. Deugnier
  • Published 2016
  • Medicine
  • The Lancet
  • Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a… CONTINUE READING
    5 Citations

    Paper Mentions

    Iron overload and altered iron metabolism in ovarian cancer
    • 11
    The C19S Substitution Enhances the Stability of Hepcidin While Conserving Its Biological Activity
    • 3
    The role of the mammalian GET pathway in the mouse liver
    Gout and Metabolic Disease: Investigation of Potential Relationship in the New Zealand Population
    • 1
    • Highly Influenced

    References

    SHOWING 1-10 OF 109 REFERENCES
    Clinical aspects of hemochromatosis.
    • 73
    The penetrance of hereditary hemochromatosis.
    • 68
    Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights.
    • 89
    Modifying factors of the HFE hemochromatosis phenotype
    • 16
    Current approach to hemochromatosis.
    • 128
    Down-regulation of hepcidin in porphyria cutanea tarda.
    • 32
    Screening for hemochromatosis in asymptomatic subjects with or without a family history.
    • 162
    • PDF