Clinical Perspectives on hereditary Hemochromatosis

O.T. Ayonrinde, E.A. Milward, A.C.G. Chua, Debbie Trinder, John Olynyk

    Research output: Contribution to journalArticle

    19 Citations (Scopus)

    Abstract

    Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overload, morbidity, and mortality, generally in adulthood. HFE-related HH is the most common type of HH and will form the core of this discussion. The discovery of new proteins and gene mutations has defined other types of HH, termed non-HFE HH. The regulatory protein hepcidin has a central role in iron homeostasis in these disorders. While the liver is the predominant organ of iron deposition and iron-overload-related disease in HFE-related HH, involvement of extrahepatic tissue can also result in morbidity and mortality if the disorder is not diagnosed before organ damage develops. This review traverses the road from HFE genotype to phenotype with a focus on clinical penetrance, modifier factors for disease expression, and current thoughts and controversies on HH diagnosis and screening.
    Original languageEnglish
    Pages (from-to)451-484
    JournalCritical Reviews in Clinical Laboratory Sciences
    Volume45
    Issue number5
    DOIs
    Publication statusPublished - 2008

    Fingerprint

    Hemochromatosis
    Iron
    Iron Overload
    Hepcidins
    Iron Metabolism Disorders
    Metabolism
    Morbidity
    Liver
    Mortality
    Penetrance
    Screening
    Proteins
    Tissue
    Homeostasis
    Genotype
    Phenotype
    Mutation

    Cite this

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    abstract = "Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overload, morbidity, and mortality, generally in adulthood. HFE-related HH is the most common type of HH and will form the core of this discussion. The discovery of new proteins and gene mutations has defined other types of HH, termed non-HFE HH. The regulatory protein hepcidin has a central role in iron homeostasis in these disorders. While the liver is the predominant organ of iron deposition and iron-overload-related disease in HFE-related HH, involvement of extrahepatic tissue can also result in morbidity and mortality if the disorder is not diagnosed before organ damage develops. This review traverses the road from HFE genotype to phenotype with a focus on clinical penetrance, modifier factors for disease expression, and current thoughts and controversies on HH diagnosis and screening.",
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    Clinical Perspectives on hereditary Hemochromatosis. / Ayonrinde, O.T.; Milward, E.A.; Chua, A.C.G.; Trinder, Debbie; Olynyk, John.

    In: Critical Reviews in Clinical Laboratory Sciences, Vol. 45, No. 5, 2008, p. 451-484.

    Research output: Contribution to journalArticle

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    AU - Ayonrinde, O.T.

    AU - Milward, E.A.

    AU - Chua, A.C.G.

    AU - Trinder, Debbie

    AU - Olynyk, John

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