Article
Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?
Gut - 1 Jul 2002
Ryan E, Byrnes V, Coughlan B, Flanagan A-M, Barrett S, O'Keane J C, Crowe J
Abstract excerpt
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 observed at the same frequency clinically, suggesting that a large proportion of Irish HH patients may remain undiagnosed....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.