PMID- 10094552
OWN - NLM
STAT- MEDLINE
DCOM- 19990323
LR  - 20161124
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 2
DP  - 1999
TI  - A retrospective anonymous pilot study in screening newborns for HFE mutations in 
      Scandinavian populations.
PG  - 154-9
AB  - 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.
FAU - Merryweather-Clarke, A T
AU  - Merryweather-Clarke AT
AD  - MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington,
      Oxford, UK. alison@hammer.imm.ox.ac.uk
FAU - Simonsen, H
AU  - Simonsen H
FAU - Shearman, J D
AU  - Shearman JD
FAU - Pointon, J J
AU  - Pointon JJ
FAU - Norgaard-Pedersen, B
AU  - Norgaard-Pedersen B
FAU - Robson, K J
AU  - Robson KJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (HFE protein, human)
RN  - 0 (HLA Antigens)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Alleles
MH  - Genes, MHC Class I/genetics
MH  - *Genetic Testing
MH  - HLA Antigens/*genetics
MH  - Hemochromatosis/epidemiology/*genetics
MH  - Hemochromatosis Protein
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Infant, Newborn
MH  - *Membrane Proteins
MH  - Mutation/*genetics
MH  - *Neonatal Screening
MH  - Pilot Projects
MH  - Retrospective Studies
MH  - Scandinavian and Nordic Countries/epidemiology
EDAT- 1999/03/27 03:12
MHDA- 2000/06/22 10:00
CRDT- 1999/03/27 03:12
PHST- 1999/03/27 03:12 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/27 03:12 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(2):154-9. doi:
      10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E.