High prevalence of a screening-detected, HFE-unrelated, mild idiopathic iron overload in Northern Italy

Giovanni Barosi, Laura Salvaneschi, Maurizia Grasso, Miryam Martinetti, Monia Marchetti, Umberto Bodini, Alessandro Reggianni, Francesco D'Agostino, Giulio Nalli, Alberto Degiuli, Annalisa De Silvestri, Eloisa Arbustini

Research output: Contribution to journalArticlepeer-review


Background and Objectives. In Italy, typical HFE mutations account for only 64% of the cases with overt hereditary hemochromatosis (HH), and a common HFE-unrelated disease was hypothesized. Design and Methods. One thousand and fifty potential blood donors were screened by iron tests, C282Y and H63D HFE mutation analysis in a region in North Italy. Subjects with repeated fasting transferrin saturation of 45% or more and no secondary iron overload were defined as probands with idiopathic iron overload. To assess the inheritance of iron overload, relatives of probands were screened. Results. The overall frequency of probands with idiopathic iron overload was 3.43% (95% confidence interval, 2.32 to 4.52). Of these, 8.4% had genotypes associated with HH (compound heterozygous for H63D/C282Y or homozygous for H63D HFE mutations), and 91.6% had atypical genotypes: 47.2% were heterozygous for C282Y or H63D HFE mutations, and 44.4% had wild type/wild type genotype, A family history of iron overload was proven in 33.3% of probands with atypical genotypes (1.04% of the overall population). Pedigree analysis excluded linkage of heterozygous HFE mutations with iron overload (cumulative lod score-2.41) and documented a recessive non-HLA-linked locus accounting for iron overload in wild type/wild type genotypes, None of the probands had clinical signs of iron accumulation; in males, serum ferritin positively correlated with age (r=0.63, p

Original languageEnglish
Pages (from-to)472-478
Number of pages7
Issue number5
Publication statusPublished - 2002


  • Hereditary hemochromatosis
  • Idiopathic iron overload

ASJC Scopus subject areas

  • Hematology


Dive into the research topics of 'High prevalence of a screening-detected, HFE-unrelated, mild idiopathic iron overload in Northern Italy'. Together they form a unique fingerprint.

Cite this