Title of article :
Population screening for hemochromatosis: a study in 5370 Spanish blood donors
Author/Authors :
Mayka Sanchez، نويسنده , , Margarita Villa، نويسنده , , Mercedes Ingelmo، نويسنده , , Cristina Sanz، نويسنده , , Miquel Bruguera، نويسنده , , Carlos Ascaso، نويسنده , , Rafael Oliva، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2003
Pages :
6
From page :
745
To page :
750
Abstract :
Background/Aims: Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits throughout the body. We conducted a population-based study in Spain to asses the prevalence of the HFE mutations and their effect on iron parameters. Methods: We screened 5370 blood donors for the C282Y and H63D HFE mutations by allele-specific polymerase chain reaction. Serum iron, serum ferritin and transferrin saturation were also measured. Results: We have found eight (five men and three women) blood donors who are C282Y homozygotes (0.15%) and 74 C282Y/H63D compound heterozygotes (1.38%). Four out of the eight C282Y homozygotes, all men, had high serum ferritin and transferrin saturation values. No woman was detected with both iron parameters increased. Only one of the 74 C282Y/H63D compound heterozygotes showed elevated serum ferritin and transferrin saturation values (penetrance 1.35%). Serum ferritin and transferrin saturation were significantly higher in C282Y homozygous men as compared with the rest of the genotypes. Conclusions: 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.
Keywords :
hereditary hemochromatosis , Iron overload , HFE gene , H63D , C282Y
Journal title :
Journal of Hepatology
Serial Year :
2003
Journal title :
Journal of Hepatology
Record number :
585787
Link To Document :
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