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CURRENT ISSUEMINERVA UROLOGICA E NEFROLOGICA

A Journal on Nephrology and Urology


Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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Minerva Urologica e Nefrologica 2008 June;60(2):81-4

 ORIGINAL ARTICLES

High prevalence of HFE gene mutations in hemodialysis patients

Mennella G. 1, Valverde S. 2, Forzan S. 2, Fezzi M. 3, Munaretto G. 1, Gessoni G. 2

1 Nephrology and Dialysis Unit Chioggia Community Hospital Chioggia, Venice, Italy
2 Clinical Pathology Laboratory Chioggia Community Hospital Chioggia, Venice, Italy
3 HLA Laboratory Transfusional Service Mestre General Hospital, Mestre, Venice, Italy

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 hemodialysy 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.

language: English


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