title: Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic.
abstract: The aim of this study was to establish the prevalence of HFE gene mutations in the population of the Czech Republic. Altogether, 257 randomly selected newborn screening cards (Guthrie cards) were analyzed for the C282Y and H63D mutations within the HFE gene. Complete results were obtained from 254 cards for the C282Y mutation and 257 cards for the H63D mutation. No sample was identified as homozygous for C282Y, and two (0.78%) were homozygous for H63D. Twenty (7.87%) samples were C282Y-heterozygous, and 69 (26.84%) were H63D-heterozygous. Of these, two (0.79%) carried one copy of each mutation, i.e., were compound heterozygous. Allele frequencies for C282Y and H63D were 0.039 and 0.142, respectively. The observed genotype frequencies for both C282Y and H63D mutations in the Czech Republic are in the range of values reported for other Central and Western European populations.
authors.affiliation: Center of Preventive Medicine, Division of Health of Children and Youth, Third Faculty of Medicine, Charles University, Prague, Czech Republic. mcimbur@email.cz
authors.forename: Marketa
authors.initials: M
authors.lastname: Cimburova
authors.forename: Ivana
authors.initials: I
authors.lastname: Putova
authors.forename: Hana
authors.initials: H
authors.lastname: Provaznikova
authors.forename: Jiri
authors.initials: J
authors.lastname: Horak
mesh_terms: D000483:Alleles; D018153:Czech Republic; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data*; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D005828:Genetics, Population / Q000706:statistics & numerical data; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D015997:Neonatal Screening; D012189:Retrospective Studies; D018570:Risk Assessment / Q000706:statistics & numerical data
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins