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Article

Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening.

European journal of gastroenterology & hepatology - 1 Sept 2004

Gleeson F, Ryan E, Barrett S, Crowe J

Abstract excerpt

BACKGROUND: In Ireland, the homozygote frequency of the C282Y mutation in the HFE gene is 1/83. The biochemical expression of this mutation is high in haemochromatosis (HH) individuals identified through family screening, but the clinical expression of the mutation in Irish HH subjects to date has not been investigated fully. OBJECTIVES: To determine the clinical, biochemical and histological penetrance of the...

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Identifiers

PMID: 15316409
DOI: 10.1097/00042737-200409000-00008

Genes

HFE

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening.PMID 15316409Read ↗

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Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.Semantic proximity Read ↗

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