Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits in the body.
In this study, researchers from Barcelona, Spain, assessed the prevalence of the HFE mutations, and their effect on iron parameters.
The team screened 5370 blood donors for C282Y and H63D HFE mutations using allele-specific PCR.
They also measured serum iron, serum ferritin, and transferrin saturation.
|4 of 8 C282Y homozygotes had high serum ferritin and transferrin saturation values.|
|Journal of Hepatology|
The research team identified 8 (5 male) blood donors who were C282Y homozygotes, and 74 C282Y/H63D compound heterozygotes.
Of the male subjects, 4 of 8 C282Y homozygotes had high serum ferritin and transferrin saturation values.
The team did not identify any women with both iron parameters increased.
In addition, only 1 of the 74 C282Y/H63D compound heterozygotes showed elevated serum ferritin and transferrin saturation values.
The team found that serum ferritin and transferrin saturation were significantly higher in C282Y homozygous men, when compared with the rest of the genotypes.
Dr Mayka Sánchez’s team concluded, “The C282Y/C282Y genotype frequency in Spain is 1 in 1004”.
“The C282Y/C282Y genotype is clearly associated with an increase in iron parameters”.
“Biochemical expression of the disease was found in 80% of the C282Y/C282Y men”.