Preferences help
enabled [disable] Abstract
Number of results
2011 | 6 | 2 | 148-151
Article title

Hemochromatosis gene mutations in the general population of Slovakia

Title variants
Languages of publication
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.
Physical description
1 - 4 - 2011
17 - 2 - 2011
  • [1] Bothwell T.H., MacPhail A.P., Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects, Semin Hematol 1998,35(1),55–71
  • [2] Hanson E.H., Imperatore G., Burke W., HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology, Am J Epidemiol 2001,154(3),193–206[Crossref]
  • [3] Frazer D.M., Anderson G.J., Iron imports. I. Intestinal iron absorption and its regulation, Am J Physiol Gastrointest Liver Physiol 2005,289(4),G631–635 [Crossref]
  • [4] Moirand R., Jouanolle A.M., Brissot P., Le Gall J.Y., David V., Deugnier Y., Phenotypic expression of HFE mutations: a French study of 1110 unrelated ironoverloaded patients and relatives, Gastroenterology 1999,116(2),372–377[Crossref]
  • [5] Brissot P., Moirand R., Jouanolle A.M., Guyader D., Le Gall J.Y., Deugnier Y., et al., A genotypic study of 217 unrelated probands diagnosed as “genetic hemochromatosis” on “classical” phenotypic criteria, J Hepatol 1999,30(4),588–593[Crossref]
  • [6] Mura C., Raguenes O., Ferec C., HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis, Blood 1999,93(8),2502–2505
  • [7] Le Gac G., Ferec C., The molecular genetics of haemochromatosis, Eur J Hum Genet 2005,13(11),1172–1185[Crossref]
  • [8] Asberg A., Thorstensen K., Hveem K., Bjerve K.S., Hereditary hemochromatosis: the clinical significance of the S65C mutation, Genet Test 2002,6(1),59–62[Crossref]
  • [9] Lucotte G., Dieterlen F., A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?, Blood Cells Mol Dis 2003,31(2),262–267[Crossref]
  • [10] Rochette J., Pointon J.J., Fisher C.A., Perera G., Arambepola M., Arichchi D.S., et al., Multicentric origin of hemochromatosis gene (HFE) mutations, Am J Hum Genet 1999,64(4),1056–1062[Crossref]
  • [11] Merryweather-Clarke A.T., Pointon J.J., Jouanolle A.M., Rochette J., Robson K.J., Geography of HFE C282Y and H63D mutations, Genet Test 2000,4(2),183–198[Crossref]
  • [12] Ristic S., Makuc J., Starcevic N., Logar N., Brajenovic-Milic B., Stepec S., et al., Hemochromatosis gene mutations in the Croatian and Slovenian populations, Clin Genet 2003,64(5),444–446[Crossref]
  • [13] Cimburova M., Putova I., Provaznikova H., Pinterova D., Horak J., S65C and other mutations in the haemochromatosis gene in the Czech population, Folia Biol (Praha) 2005,51(6),172–176
  • [14] Pedersen P., Melsen G.V., Milman N., Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men, Ann Hematol 2008,87(9),735–740[Crossref][WoS]
  • [15] Edwards C.Q., Griffen L.M., Goldgar D., Drummond C., Skolnick M.H., Kushner J.P., Prevalence of hemochromatosis among 11,065 presumably healthy blood donors, N Engl J Med 1988,318(21),1355–1362[Crossref]
  • [16] Cukjati M., Vaupotic T., Rupreht R., Curin-Serbec V., Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay, BMC Med Genet 2007,8,69[WoS][Crossref]
  • [17] Datz C., Lalloz M.R., Vogel W., Graziadei I., Hackl F., Vautier G., et al., Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis, J Hepatol 1997,27(5),773–779[Crossref]
  • [18] Terzic R., Sehic A., Teran N., Terzic I., Peterlin B., Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina, Coll Antropol 2006,30(3),555–557
  • [19] Raszeja-Wyszomirska J., Kurzawski G., Suchy J., Zawada I., Lubinski J., Milkiewicz P., Frequency of mutations related to hereditary haemochromatosis in northwestern Poland, J Appl Genet 2008,49(1),105–107[Crossref][WoS]
  • [20] Moczulski D.K., Grzeszczak W., Gawlik B., Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin, Med Sci Monit 2001,7(3),441–443
  • [21] Zlocha J., Kovacs L., Pozgayova S., Kupcova V., Durinova S., [Molecular genetic diagnostics and screening of hereditary hemochromatosis], Vnitr Lek 2006,52(6),602–608, (In Slovak)
  • [22] Saric M., Zamurovic L., Keckarevic-Markovic M., Keckarevic D., Stevanovic M., Savic-Pavicevic D., et al., Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro, Clin Genet 2006,70(2),170–172[Crossref]
Document Type
Publication order reference
YADDA identifier
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.