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:
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Authors | Luke J Murtagh, Michael Whiley, Susan Wilson, Huy Tran, Mark L Bassett |
Journal | The American journal of gastroenterology
(Am J Gastroenterol)
Vol. 97
Issue 8
Pg. 2093-9
(Aug 2002)
ISSN: 0002-9270 [Print] United States |
PMID | 12190182
(Publication Type: Journal Article)
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Chemical References |
- Transferrin
- Ferritins
- Iron
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Topics |
- Bayes Theorem
- Ferritins
(metabolism)
- Genetic Predisposition to Disease
- Genotype
- Hemochromatosis
(diagnosis, genetics)
- Humans
- Iron
(metabolism)
- Logistic Models
- Mutation
- Predictive Value of Tests
- ROC Curve
- Sensitivity and Specificity
- Transferrin
(metabolism)
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