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The global burden of iron overload

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Abstract

There have been major developments in the field of iron metabolism in the past decade following the identification of the HFE gene and the mutation responsible for the C282Y substitution in the HFE protein. While HFE-associated hemochromatosis occurs predominantly in people of northern European extraction, other less-common mutations can lead to the same clinical syndrome and these may occur in other populations in the Asian-Pacific region. The most common of these is the mutation that leads to changes in the ferroportin molecule, the protein responsible for the transport of iron across the basolateral membrane of the enterocyte and from macrophages. Recent research has unraveled the molecular processes of iron transport and regulation of how these are disturbed in hemochromatosis and other iron-loading disorders. At the same time, at least one new oral iron chelating agent has been developed that shows promise in the therapy of hemochromatosis as well as thalassemia and other secondary causes of iron overload. It is pertinent therefore to examine the developments in the global field of iron overload that have provided insights into the pathogenesis, disease penetrance, comorbid factors, and management.

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Acknowledgments

M.J.W. is supported by an NHMRC Medical Postgraduate Scholarship and the Royal Brisbane and Women’s Hospital Research Foundation, R.S. by the Royal Brisbane and Women’s Hospital, and L.W.P. by a program grant from the National Health and Medical Research Council of Australia.

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  1. Mayne Medical School, The University of Queensland, Brisbane, 4006, Australia

    Marnie J. Wood, Richard Skoien & Lawrie W. Powell

  2. Hepatic Fibrosis Group, The Queensland Institute of Medical Research, PO Box Royal Brisbane and Women’s Hospital, Brisbane, 4029, Australia

    Marnie J. Wood

  3. Centre for the Advancement of Clinical Research, Royal Brisbane and Women’s Hospital and the University of Queensland Centre for Clinical Research, Brisbane, Australia

    Richard Skoien & Lawrie W. Powell

  4. Iron Metabolism Laboratory, The Queensland Institute of Medical Research, PO Box Royal Brisbane and Women’s Hospital, Brisbane, 4029, Australia

    Lawrie W. Powell

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  1. Marnie J. Wood
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Wood, M.J., Skoien, R. & Powell, L.W. The global burden of iron overload. Hepatol Int 3, 434–444 (2009). https://doi.org/10.1007/s12072-009-9144-z

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