Patients with biochemical iron overload: Causes and characteristics of a cohort of 150 cases

A. Altes, A. F. Remacha, A. Sureda, R. Martino, J. Briones, S. Brunet, M. Baiget, J. Sierra

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Biochemical iron overload (IO) is a frequent metabolic abnormality. It may be caused by several diseases, and data regarding the relative frequency of these are scant. A single diagnostic protocol including clinical, biochemical, and genetic data was used to diagnose the cause of biochemical IO in a group of 150 patients referred by general practitioners. Severe alterations of the HFE gene (42 patients, 28%), hepatitis C virus infection (33 patients, 22%), and dysmetabolic syndrome with iron overload (DSIO) (22 patients, 15%) emerged as the main causes, and other single causes were found in 20 patients (13%). In 19 patients (13%), multiple causes of IO were found, and in 14 patients no cause was found, 5 of whom had classical criteria of genetic hemochromatosis (GH) without HFE mutations. Transferrin saturation index (TSI) had a very low positive predictive value (0.16) for GH among patients with biochemical IO in this setting. In conclusion, 90% of patients with biochemical IO were diagnosed with a specific disorder. GH, hepatitis C infection, and DSIO were the major causes, and a large group of patients had multiple causes of IO. TSI is not a useful indicator of GH in patients referred by general practitioners.
Original languageEnglish
Pages (from-to)127-130
JournalAnnals of Hematology
Issue number2
Publication statusPublished - 1 Feb 2003


  • Dysmetabolism
  • Ferritin
  • Hemochromatosis
  • Iron
  • Transferrin saturation


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