Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic.

@article{Cimburova2002HereditaryHD,
  title={Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic.},
  author={Marketa Cimburova and Ivana Půtov{\'a} and Hana Provaznikova and Jiř{\'i} Hor{\'a}k},
  journal={Genetic epidemiology},
  year={2002},
  volume={23 3},
  pages={260-3}
}
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… CONTINUE READING