Population screening for hemochromatosis: a study in 5370 Spanish blood donors
Author
Sánchez, Mayka
Villa, Margarita
Ingelmo, Mercedes
Sanz, Cristina
Bruguera, Miquel
Ascaso, Carlos
Oliva, Rafael
Publication date
2003ISSN
0168-8278
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.
Document Type
Article
Document version
Published version
Language
English
Subject (CDU)
61 - Medical sciences
Keywords
Medicina
Medicina
Medicine
Pages
5
Publisher
Elsevier
Collection
38;6
Is part of
Journal of Hepatology
Citation
Sánchez, Mayka; Villa, Margarita; Ingelmo, Mercedes [et al.]. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. Journal of Hepatology, 2003, 38(6), p. 745-750. Disponible en: <https://www.sciencedirect.com/science/article/abs/pii/S0168827803001235?via%3Dihub>. Fecha de acceso: 22 ene. 2024. DOI: 10.1016/S0168-8278(03)00123-5
This item appears in the following Collection(s)
- Ciències de la Salut [725]
Rights
© 2003 European Association for the Study of the Liver. Published by Elsevier Ireland Ltd. All rights reserved.