Article
Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.
Human genetics - 1 Dec 2002
McCune C Anne, Al-Jader Layla N, May Alison, Hayes Sara L, Jackson Helen A, Worwood Mark
Abstract excerpt
In northern Europe, about 90% of patients with hereditary haemochromatosis (HH) are homozygous for a single mutation (C282Y) of the HFEgene and approximately 1 in 150 people in the general population carries this genotype. However, the clinical significance of HFE mutations remains uncertain, as is the proportion of people homozygous for C282Y who will develop clinical symptoms leading to a diagnosis of HH. A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.