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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Autori principali: Ryan, E, Byrnes, V, Coughlan, B, Flanagan, A-M, Barrett, S, O'Keane, J C, Crowe, J
Natura: Artigo
Lingua:Inglês
Pubblicazione: Copyright 2002 by Gut 2002
Soggetti:
Liver and Biliary Disease
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1773286/
https://ncbi.nlm.nih.gov/pubmed/12077102
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