Unsaturated iron binding capacity and transferrin saturation are equally reliable in detection of HFE hemochromatosis

Am J Gastroenterol. 2002 Aug;97(8):2093-9. doi: 10.1111/j.1572-0241.2002.05927.x.

Abstract

Objective: Unsaturated iron binding capacity (UIBC) has been proposed as an inexpensive alternative to transferrin saturation for detection of hereditary hemochromatosis. The aim of this study was to compare, in a hospital referral clinic, the reliability of transferrin saturation and UIBC for detection of subjects who have inherited HFE (HLA-asociated iron overload) genotypes predisposing to iron overload.

Methods: Serum transferrin saturation, UIBC, and ferritin were tested in 110 consecutive subjects. Optimum thresholds were determined from receiver operating characteristic curves.

Results: Of 110 subjects, 44 carried significant HFE mutations (C282Y/C282Y or C282Y/H63D). In genetically predisposed subjects with biochemical expression, the optimum threshold for transferrin saturation was 43%, giving a sensitivity of 0.88 and specificity 0.95. For UIBC, the optimum threshold was 143 microg/dL (25.6 micromol/L), giving a sensitivity of 0.91 and specificity of 0.95. In patients referred with a family history or clinical suspicion of hemochromatosis, transferrin saturation and UIBC were highly reliable predictors of genotype. In patients referred for investigation of abnormal liver enzymes without a known family history of hemochromatosis, a normal transferrin saturation or normal UIBC was highly reliable in excluding hemochromatosis.

Conclusions: Transferrin saturation and UIBC have equal reliability in ability to predict hemochromatosis. UIBC should be considered as an alternative to transferrin saturation in detection of hemochromatosis.

MeSH terms

  • Bayes Theorem
  • Ferritins / metabolism
  • Genetic Predisposition to Disease
  • Genotype
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics
  • Humans
  • Iron / metabolism*
  • Logistic Models
  • Mutation
  • Predictive Value of Tests
  • ROC Curve
  • Sensitivity and Specificity
  • Transferrin / metabolism*

Substances

  • Transferrin
  • Ferritins
  • Iron