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BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access February 17, 2011

Hemochromatosis gene mutations in the general population of Slovakia

  • Dana Gabriková EMAIL logo , Iveta Boroňová , Ivan Bernasovský , Regina Behulová , Soňa Mačeková , Alexandra Bôžiková , Adriana Sovičová , Petra Švíčková , Eva Petrejčíková , Miroslav Soták and Jarmila Bernasovská
From the journal Open Medicine


This is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y/H63D compound heterozygotes and 0.56% of H63D/S65C compound heterozygotes. This is the first time the frequencies of H63D and S65C mutations have been reported in the general population in Slovakia. The observed allelic frequencies are consistent with the previous studies of Slavic and Central European populations.

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Published Online: 2011-2-17
Published in Print: 2011-4-1

© 2011 Versita Warsaw

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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