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Published on: March 10, 2023
High prevalence of HFE gene mutations in hemodialysis patients
G Mennella1, S Valverde, S Forzan
1Nephrology and Dialysis Unit, Chioggia Community Hospital, Chioggia, Venice, Italy. gmennella@asl14chioggia.veneto.it
Aim:
Hemochromatosis (HH) was a common inherited disease characterized by iron overload. This disease is usually the result of mutations in the HLA-linked hemochromatosis gene (HFE). The aim of this study was to evaluate the frequency of HFE mutations in a group of Venetian hemodialysis patients.
Methods:
Sixty-one hemodialysis patients, 62 patients with laboratory findings suggestive for iron overload, 57 repeat blood donors were enrolled in the study. HFE mutations were detected by using a commercial strip assay.
Results:
In this study only H63D and C282Y mutations were observed. The overall prevalence of HFE mutations was 40.9% among hemodialysis patients, 30.6% among patients with laboratory findings of iron overload and 15.8% among blood donors.
Conclusion:
A high prevalence of HFE mutation among hemodialysis patients was observed. Prevalence of HFE mutation in this group was 40.9%, significantly higher than results observed among blood donors (15.8%, P<0.005) or among patients with laboratory signs of iron overload (30.6%, P<0.01). These data are, at present inexplicable, and this results need further confirmation.
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