title: Frequency of mutations related to hereditary haemochromatosis in northwestern Poland.
abstract: Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene. In Europe, frequencies of these mutations are the highest in Northern European countries and gradually decrease southwards. We analysed the prevalence of HFE mutations in 1517 DNA samples, including 1000 samples from the general population (subjects registered at general practitioner practices) in northwestern Poland, and 517 samples of cord blood from the same region. We identified 2 (0.13%) homozygotes and 117 (7.8%) heterozygotes for the C282Y mutation. As regards the H63D mutation (1505 DNA samples analysed), 38 (2.5%) samples were homozygotes and 380 (25%) were heterozygotes. Twenty-one (1.4%) compound heterozygotes were found. These results correspond well with data from other Central European countries and seem to confirm the hypothesis of North-South spread of the C282Y mutation.
authors.affiliation: Liver Unit, Department of Gastroenterology, Pomeranian Medical School, Unii Lubelskiej 1, 71-252 Szczecin, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Raszeja-Wyszomirska
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Kurzawski
authors.forename: Janina
authors.initials: J
authors.lastname: Suchy
authors.forename: Iwona
authors.initials: I
authors.lastname: Zawada
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Piotr
authors.initials: P
authors.lastname: Milkiewicz
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D015995:Prevalence