title: Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.
abstract: In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for the C282Y mutation of the HFE gene. H63D and S65C mutations of HFE may also play some role in the disease. The aim of this study was to establish the prevalence of C282Y, H63D, and S65C mutations of the HFE gene in newborns in Catalonia, Spain. One thousand one hundred forty-six newborn screening cards were selected randomly. DNA from these cards was extracted and HFE mutations were analyzed with the LightCycler equipment (Roche Diagnostics Gmbh, Mannheim, Germany). Sufficient DNA sample was obtained to screen for the three mutations in 1,043 cases (91%). The allelic frequencies of C282Y, H63D, and S65C mutations were 0.03 (IC 95% 0.022-0.037), 0.2 (IC 95% 0.19-0.22), and 0.01 (95% confidence interval [CI] 0.006-0.015), respectively. The frequency of C282Y homozygous newborns was 0.001 (95% CI 0.0005-0.0014). The frequencies of newborns doubly heterozygous for C282Y/H63D and C282Y/S65C were 0.01 (95% CI 0.005-0.02) and 0.002 (95% CI 0.0002-0.01), respectively. The allelic frequency of C282Y mutation is similar to that observed in Southern France, in the Czech Republic and in some areas of Italy. The allelic frequency of H63D mutation in Catalonia is the highest reported to date. Nevertheless, S65C is infrequent. These data should be kept in mind when designing hemochromatosis genotypic screening programs in Catalonia.
authors.affiliation: Hematology Department, Hospital de l'Esperit Sant, Santa Coloma de Gramenet, Barcelona, Spain 08923. aaltes@hes.scs.es
authors.forename: Albert
authors.initials: A
authors.lastname: Altes
authors.forename: Angels
authors.initials: A
authors.lastname: Ruiz
authors.forename: Ma Jesus
authors.initials: MJ
authors.lastname: Barceló
authors.forename: Angel Francisco
authors.initials: AF
authors.lastname: Remacha
authors.forename: Teresa
authors.initials: T
authors.lastname: Puig
authors.forename: Antonio José
authors.initials: AJ
authors.lastname: Maya
authors.forename: Conxa
authors.initials: C
authors.lastname: Castell
authors.forename: Jose Ma
authors.initials: JM
authors.lastname: Amate
authors.forename: Zuleika
authors.initials: Z
authors.lastname: Saz
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D015997:Neonatal Screening; D015995:Prevalence; D013030:Spain / Q000453:epidemiology
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins