Phenotypic expression of hereditary hemochromatosis : what have we learned from the population studies?

E.K. Gan, O.T. Ayonrinde, Debbie Trinder, John Olynyk

    Research output: Contribution to journalArticle

    Abstract

    Profound advances in our knowledge of hereditary hemochromatosis (HH) during the past 150 years have resulted in two distinct “iron ages”: the pre-HFE gene era and the post-HFE gene era. During these periods, family studies, HLA association studies, and ultimately HFE gene studies in various populations informed us of the genotypic prevalence as well as the clinical and biochemical penetrance of HH. We learned that HH has a highly variable clinical penetrance in susceptible individuals of Northern European ancestry. Further, we now recognize that the natural history of HH is not as discrete as previously believed, because genetic and environmental modifiers of disease penetrance are increasingly identified as influencing the clinical expression of HH.
    Original languageEnglish
    Pages (from-to)N/A
    JournalCurrent Gastroenterology Reports
    Volume12
    Issue number1
    Publication statusPublished - 2009

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    Hemochromatosis
    Penetrance
    Population
    Genes
    Natural History
    Iron

    Cite this

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    title = "Phenotypic expression of hereditary hemochromatosis : what have we learned from the population studies?",
    abstract = "Profound advances in our knowledge of hereditary hemochromatosis (HH) during the past 150 years have resulted in two distinct “iron ages”: the pre-HFE gene era and the post-HFE gene era. During these periods, family studies, HLA association studies, and ultimately HFE gene studies in various populations informed us of the genotypic prevalence as well as the clinical and biochemical penetrance of HH. We learned that HH has a highly variable clinical penetrance in susceptible individuals of Northern European ancestry. Further, we now recognize that the natural history of HH is not as discrete as previously believed, because genetic and environmental modifiers of disease penetrance are increasingly identified as influencing the clinical expression of HH.",
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    Phenotypic expression of hereditary hemochromatosis : what have we learned from the population studies? / Gan, E.K.; Ayonrinde, O.T.; Trinder, Debbie; Olynyk, John.

    In: Current Gastroenterology Reports, Vol. 12, No. 1, 2009, p. N/A.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Phenotypic expression of hereditary hemochromatosis : what have we learned from the population studies?

    AU - Gan, E.K.

    AU - Ayonrinde, O.T.

    AU - Trinder, Debbie

    AU - Olynyk, John

    PY - 2009

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    AB - Profound advances in our knowledge of hereditary hemochromatosis (HH) during the past 150 years have resulted in two distinct “iron ages”: the pre-HFE gene era and the post-HFE gene era. During these periods, family studies, HLA association studies, and ultimately HFE gene studies in various populations informed us of the genotypic prevalence as well as the clinical and biochemical penetrance of HH. We learned that HH has a highly variable clinical penetrance in susceptible individuals of Northern European ancestry. Further, we now recognize that the natural history of HH is not as discrete as previously believed, because genetic and environmental modifiers of disease penetrance are increasingly identified as influencing the clinical expression of HH.

    M3 - Article

    VL - 12

    SP - N/A

    JO - Current Gastroenterology Reports

    JF - Current Gastroenterology Reports

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