Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.

European journal of gastroenterology & hepatology - 1 May 2008

Watkins Stuart, Thorburn Douglas, Joshi Neeraj, Neilson Margaret, Joyce Theresa, Spooner Richard, Cooke Alexander, Mills Peter R, Morris A John, Stanley Adrian J

Abstract excerpt

BACKGROUND: HFE-related genetic haemochromatosis (GH) is the commonest inherited genetic disorder in Caucasian populations with approximately one in 180 of individuals in the west of Scotland homozygous for the common C282Y mutation. The clinical diagnosis of GH, however, remains relatively uncommon - suggesting either under diagnosis or low clinical penetrance. AIM: We aimed to assess the biochemical and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthralgia
Share to Fatigue

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ferritins

Share to Hemochromatosis

Share to Hemochromatosis Protein

Share to Iron Overload

Share to Penetrance

Share to Transferrin

Source

Identifiers

PMID: 18403938
DOI: 10.1097/MEG.0b013e3282f3e708

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.PMID 18403938Read ↗

Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening.Semantic proximity Read ↗

A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.Semantic proximity Read ↗

Haemochromatosis mutations in North-East Scotland.Semantic proximity Read ↗

Prevalence of genetic haemochromatosis and iron overload in patients attending rheumatology and joint replacement clinics.Semantic proximity Read ↗

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients.Semantic proximity Read ↗

Haemochromatosis.Semantic proximity Read ↗

Clinical penetrance of C282Y homozygous HFE hemochromatosis.Semantic proximity Read ↗

Phenotypic and clinical manifestations of compound heterozygous genetic haemochromatosis (CHGH): a non-invasive approach to clinical management.Semantic proximity Read ↗

Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?Semantic proximity Read ↗

Haemochromatosis: pathological or beneficial.Semantic proximity Read ↗

Population screening for haemochromatosis: expectations based on a study of relatives of symptomatic probands.Semantic proximity Read ↗

Phenotypic expression in detected C282Y homozygous women depends on body mass index.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.