Population screening for hemochromatosis: a study in 5370 Spanish blood donors.
OBJECTIVE
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.
Sánchez
Mayka
M
Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Casanova 143, 08036, Barcelona, Spain.
Villa
Margarita
M
Ingelmo
Mercedes
M
Sanz
Cristina
C
Bruguera
Miquel
M
Ascaso
Carlos
C
Oliva
Rafael
R
D000328:Adult; D001224:Aspartic Acid; D001782:Blood Donors; D003545:Cysteine; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D006639:Histidine; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D012727:Sex Characteristics; D013030:Spain; D014168:Transferrin / Q000032:analysis; D014443:Tyrosine
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D001224:Aspartic Acid; D014443:Tyrosine; D006639:Histidine; D005293:Ferritins; D003545:Cysteine