Abstract

TORREMOCHA, R.A. et al. Prevalencia de mutaciones C282Y, H63D y S65C en un colectivo laboral del País Vasco. Rev Diagn Biol [online]. 2002, vol.51, n.4, pp.140-144. ISSN 0034-7973.

The present study analyses the frequency of the HFE gene mutations associated to hereditary hemochromatosis C282Y, H63D y S65C, from a working population sample of 225 individuals originating from a Vizcaya County. DNA was extracted from blood samples and mutations were detected by PCR followed by enzymatic digestion. Results showed a higher prevalence for the H63D mutation (11,56% were homozygous and 48% were heterozygous). In the other hand, C282Y and S65C mutations only were present in heterozygosis in 4,45% and 2,22%, respectively. These results reveal a higher prevalence for the H63D mutation in this working sample than those reported for other Spanish and European populations. C282Y and S65C frequencies calculated are lower than H63D prevalence, and similar to those estimated for other populations. 

Keywords : Hereditary haemochromatosis; iron; HFE gene; mutations .