Sammendrag
As part of a health survey programme including all inhabitants 20 years or older in a Norwegian county, blood samples were obtained and stored from 65238 persons. Screening for hemochromatosis by measuring serum transferrin saturation and serum ferritin was one of several subprojects of the survey. All subjects with high serum transferrin saturation in two tests were offered genotyping for the C282Y and the H63D mutations. Data from this survey, to be reported elsewhere (Åsberg A. et al. (2001) “Screening for hemochromatosis – high prevalence and low morbidity in an unselected population of 65238 persons.” Scand. J. Gastroenterol., in press), indicated that the allele frequency of the C282Y mutation was at least 8.2%. An estimate of the frequencies of the hemochromatosis mutations based on random sampling from a large population is lacking in Norway. In addition, this type of data is necessary to find the diagnostic accuracy of serum transferrin saturation in a screening situation. For this reason we set out to extract DNA from 5000 randomly picked blood samples, and to genotype each sample with respect to the C282Y, the H63D and the S65C mutations. Initial estimates indicate that the allele frequency of theC282Y mutation is significantly higher than the 8.2% estimated from the phenotypically screened population. Our presentation will give updated frequency data for all three mutations.
Vis fullstendig beskrivelse
