Format

Send to:

Choose Destination
See comment in PubMed Commons below
Hum Mutat. 1999;13(2):154-9.

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

Author information

  • 1MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, UK. alison@hammer.imm.ox.ac.uk

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.

PMID:
10094552
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Write to the Help Desk