Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?

Background: The majority of hereditary haemochromatosis (HH) patients are homozygous for the C282Y mutation in the HFE gene. We have demonstrated a homozygote frequency of 1 in 83 for the C282Y mutation in a retrospective analysis of Irish neonates. However, a fully developed phenotype is not observ...

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Bibliographic Details
Main Authors:	Ryan, E, Byrnes, V, Coughlan, B, Flanagan, A-M, Barrett, S, O'Keane, J C, Crowe, J
Format:	Artigo
Language:	Inglês
Published:	Copyright 2002 by Gut 2002
Subjects:	Liver and Biliary Disease
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1773286/ https://ncbi.nlm.nih.gov/pubmed/12077102
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Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?

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