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A retrospective anonymous pilot study in screening newborns forHFE mutations in Scandinavian populations

Year: 1999

Type: article

Abstract: 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 that population screening for the C282Y mutation could be highly advantageous in terms of preventive health care. Long-term follow-up evaluation of C282Y homozygotes and H63D/C282Y compound heterozygotes will give an indication of the penetrance of the mutations.

Source: Human Mutation

DOI: 10.1002/(sici)1098-1004(1999)13:2<154::aid-humu8>3.0.co;2-e

Authors: Alison T. Merryweather-Clarke, Henrik Siimonsen, Jeremy D. Shearman, Jennifer J. Pointon, Bent N�rgaard-Pedersen, Kathryn J.H. Robson

Institutions: University of Oxford, MRC Molecular Haematology Unit, Statens Serum Institut, John Radcliffe Hospital

Language: English

Topic: Iron Metabolism and Disorders

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2148709343

FWCI: 4.537

Cites: 35

Cited by: 53

Related to: 10