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

Topics Community

Article

Haemochromatosis mutations in North-East Scotland.

British journal of haematology - 1 Aug 1999

Miedzybrodzka Z, Loughlin S, Baty D, Terron A, Kelly K, Dean J, Greaves M, Pippard M, Haites N

Abstract excerpt

The HFE gene and its mutations C282Y and H63D cause hereditary haemochromatosis (HH). Among 54 affected individuals from North-East Scotland, 91% were homozygous for C282Y and 5.5% were compound heterozygotes for C282Y and H63D. The general population allele frequencies were high (8% and 15.7% fo...

Topics

Female
Gene Frequency
Hemochromatosis
Heterozygote
Homozygote
Humans
Mutation
Scotland

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 10460595
DOI: 10.1046/j.1365-2141.1999.01554.x

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-10460595-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haemochromatosis mutations in North-East Scotland.PMID 10460595Read ↗

Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.Semantic proximity Read ↗

Haemochromatosis.Semantic proximity Read ↗

The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease.Semantic proximity Read ↗

Haemochromatosis in the new millennium.Semantic proximity Read ↗

HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.Semantic proximity Read ↗

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

Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.Semantic proximity Read ↗

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.Semantic proximity Read ↗

HFE Mutations as risk factors in disease.Semantic proximity Read ↗

Geography of HFE C282Y and H63D mutations.Semantic proximity Read ↗

The significance of haemochromatosis gene mutations in the general population: implications for screening.Semantic proximity Read ↗

HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis.Semantic proximity Read ↗

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