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

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

Human mutation - 1 Jan 1999

Merryweather-Clarke A T, Simonsen H, Shearman J D, Pointon J J, Nørgaard-Pedersen B, Robson K J

Abstract excerpt

We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis. We have found C282Y allele frequencies of 2.3% (+2.0%) (-1.3%) in Greenland, 4.5%+/-1.9% in Iceland, 5.1%+/-2.3% in the Faeroe Islands, and 8.2%+/-2.7% in Denmark. The high prevalence of HFE mutations in Denmark suggests...

Read the complete abstract on PubMed

Topics

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

Share to Genes, MHC Class I
Share to Hemochromatosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hemochromatosis Protein

Share to Histocompatibility Antigens Class I

Share to HLA Antigens

Share to Neonatal Screening

Share to Pilot Projects

Share to Scandinavian and Nordic Countries

Source

Identifiers

PMID: 10094552
DOI: 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.PMID 10094552Read ↗

Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.Semantic proximity Read ↗

Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.Semantic proximity Read ↗

Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men.Semantic proximity Read ↗

Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.Semantic proximity Read ↗

Prevalence of HFE mutations in California newborns.Semantic proximity Read ↗

HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping.Semantic proximity Read ↗

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes.Semantic proximity Read ↗

Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic.Semantic proximity Read ↗

S65C and other mutations in the haemochromatosis gene in the Czech population.Semantic proximity Read ↗

A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology.Semantic proximity Read ↗

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain).Semantic proximity Read ↗

Genetic hemochromatosis, a Celtic disease: is it now time for population screening?Semantic proximity Read ↗

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