Hereditary hemochromatosis is the most prevalent monogenic disease in the Caucasian European population, the highest prevalence of HFE mutations being reported in European studies, and the C282Y mutation being the most prevalent in northwest Europe. This indicates a European origin for this mutation. Prevalence of the H63D mutation is equally high in northwest and southern Europe [9]. Some studies have demonstrated that combined heterozygosity for C282Y/S65C is associated with a mild form of hemochromatosis [8], the S65C mutation prevalence being low in healthy individuals [8,10,11].

The results presented here reveal a low prevalence of the C282Y mutation in Macedonians and its absence among Albanians and Gypsies in the Republic of Macedonia. This is consistent with the reported low prevalence of this mutation in southern Europe (Greece, Italy, Spain) [9]. The prevalence of the H63D mutation is higher in Macedonians, Albanians and Gypsies in the Republic of Macedonia. This agrees with published results from other studies [9,13]. The prevalence of the S65C mutation among the Macedonians is higher than that reported from France, Denmark and the USA [10,11].

Given the fact that the consequences of iron overload in hereditary hemochromatosis are preventable by phlebotomy, the knowledge of the presence of these HFE mutations, and of the low C282Y prevalence in the Republic of Macedonia, raises the question of systematic HFE mutation screening in clinically relevant cases [4-6].

Fig. 1: Photoreproduction of the agarose gels obtained after electrophoresis of the digested PCR products

 a. C282Y detection with Rsa I  

d. H63D detection with Bcl I

lines R 11, 13, 14 aqnd 18 are H63D heterozygotes