Genetic hemochromatosis, a Celtic disease: Is it now time for population screening?

Citation
V. Byrnes et al., Genetic hemochromatosis, a Celtic disease: Is it now time for population screening?, GENET TEST, 5(2), 2001, pp. 127-130
Citations number
25
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENETIC TESTING
ISSN journal
10906576 → ACNP
Volume
5
Issue
2
Year of publication
2001
Pages
127 - 130
Database
ISI
SICI code
1090-6576(200122)5:2<127:GHACDI>2.0.ZU;2-Y
Abstract
In populations of northern European ancestry, hereditary hemochromatosis (H H) is tightly linked to mutations within the hemochromatosis gene (HFE gene ). Over 93% of Irish HH patients are homozygous for the HFE gene C282Y muta tion, providing a reliable diagnostic marker of the disease in this populat ion. However, the prevalence of the C282Y mutation and that of the second H FE gene mutation, H63D, have yet to be determined within the Irish populati on. The objective of this study was to identify the true prevalence of the genetic form of HH in the Irish population. DNA was extracted from 1002 ran domly selected newborn screening cards and analyzed for the C282Y and H63D mutations within the HFE gene. Complete results were obtained from 800 card s. Mutations were identified in 364 (46%) neonates. Eight (1%) neonates wer e homozygous for C282Y and 8 (1%) were homozygous for H63D. One hundred and fifty-five (19%) neonates were C282Y heterozygous and 226 (28%) were H63D heterozygous. Of these, 33 (4%) carried one copy of both C282Y and H63D mut ations, i.e., compound heterozygous. Allele frequencies for C282Y and H63D were 11% and 15%, respectively. The high C282Y allele frequency in the Iris h population together with its close linkage to HH indicate that C282Y geno typing is the preferred screening strategy for this disease in Ireland.