High prevalence of HFE gene mutations in hemodialysis patients.

Abstract

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.

• Authors: G Mennella, S Valverde, S Forzan, M Fezzi, G Munaretto, G Gessoni
• Journal: Minerva urologica e nefrologica = The Italian journal of urology and nephrology (Minerva Urol Nefrol) Vol. 60 Issue 2 Pg. 81-4 (Jun 2008) ISSN: 0393-2249 [Print] Italy
• PMID: 18500222 (Publication Type: Journal Article)

Chemical References

• HFE protein, human
• Hemochromatosis Protein
• Histocompatibility Antigens Class I
• Membrane Proteins

Topics

• Adult
• Aged
• Aged, 80 and over
• Female
• Hemochromatosis (genetics)
• Hemochromatosis Protein
• Histocompatibility Antigens Class I (genetics)
• Humans
• Male
• Membrane Proteins (genetics)
• Middle Aged
• Mutation
• Renal Dialysis