Pathophysiological consequences and benefits of HFE mutations: 20 years of research.
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ABSTRACT:
SUBMITTER: Hollerer I
PROVIDER: S-EPMC5477599 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
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Pathophysiological consequences and benefits of <i>HFE</i> mutations: 20 years of research.
Hollerer Ina I Bachmann André A Muckenthaler Martina U MU
Haematologica 20170309 5
Mutations in the <i>HFE</i> (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The <i>HFE</i> mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation causes a clinically relevant phenotype only in a minority of cases. In this review, we summa ...[more]
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