Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “HEMOCHROMATOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,333 records · Page 74Linked to original sources
PubMed2002

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

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.

Alleles↗