The three main mutations in gene HFE (C282Y, H63D, S65C) are the cause of 
development of 97% of cases of inherent hemochromatosis. It is known that about 
85% of patients with inherent hemochromatosis are either homo-zygotic agents of 
mutation C282Y or carry compound-heterozygote C282Y/H63D. Therefore, the 
molecular genetic study intended for detection of these three mutations in gene 
HFE takes important place in diagnostic of inherent hemochromatosis. The study 
was organized to develop methods for detection of mutations C282Y, H63D, S65C on 
the basis of two molecular genetic methods - polymerase chain reaction in 
real-time and pyrosequenation. As reference method was used published method by 
Moyses C.B. et al. (2008). These methods were applied to analyzing 129 DNA 
samples. There were no discordant results. Among analyzed clinical DNA samples, 
mutant alleles of gene HFE were detected in 42 samples (32.5%)ю The mutation 
C282Y is detected in heterozygotic condition in 4 samples (3.1%); mutation H63D 
was detected in heterozygotic condition in 31 samples (24%) and in homo-zygotic 
condition in 4 samples (4%). The mutation S65C encountered in heterozygotic 
condition in one sample (0.8%) and in one sample compound-heterozygote H63D/S65C 
was detected (0.8%). The comparative characteristic of these three methods was 
made according the following parameters: time, number of analysis stages and 
convenience of interpretation of results. The main merit of method based on 
polymerase chain reaction in real-time is time of analysis implementation. The 
main merit of method based on pyrosequenation is automatic identification of 
genotype.