An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy

A. Floreani, E. Rosa Rizzotto, D. Basso, F. Navaglia, M. Zaninotto, I. Petridis, O. Di Andrea, R. Testa, M. Marra, V. Baldo, M. Chiaramonte, S. Lobello, B. Marracini, I. Carderi, E. Lattanzi

Research output: Contribution to journalArticlepeer-review


Background: The C282Y mutation in the HFE gene is responsible for most cases of hereditary haemochromatosis. Aim: To investigate the allele frequency of HFE mutations and the associations between mutations and cases of iron overload or liver diseases in an open population of Central Italy. Methods: A total of 502 individuals over 8 years of age, comprising 203 males and 299 females, who were residents in Arsita (a small town in Central Italy), were assayed for: C282Y, H63D and S65C mutations of the HFE gene by TaqMan probes; body mass index, serum ferritin, transferrin saturation, transaminases, GGT, glucose, insulin, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, HBV and HCV serum markers. Information was obtained on alcohol intake. Liver ultrasound was performed in 334 (67%) subjects. Results: The allele frequencies for C282Y, H63D and S65C were 2%, 15%, and 0.01%, respectively. C282Y/wt was found in 19 subjects (4%), H63D/wt in 127 (25%), H63D/H63D in 11 (2%) and S65C/wt in one (2.0‰). No homozygosity for C282Y or compound mutation (C282Y/H63D) was found in the study population, but 27 subjects (5%) had TfSat >45% (including 10 subjects with high serum ferritin). Overall, 49 subjects (9.8%) were HCV-RNA-positive. Logistic regression analysis indicated that male gender (P = 0.000) and hepatic steatosis (P = 0.017) were independent variables correlating to a high serum ferritin. Conclusion: C282Y HFE mutation is less frequent in Central Italy than in Northern Italy.

Original languageEnglish
Pages (from-to)577-586
Number of pages10
JournalAlimentary Pharmacology and Therapeutics
Issue number4
Publication statusPublished - Aug 2007

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Pharmacology, Toxicology and Pharmaceutics(all)


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