Routine transferrin saturation measurement in liver clinic patients increases detection of hereditary haemochromatosis

Ann Clin Biochem 2003;40:521-527
doi:10.1258/000456303322326434
© 2003 Association for Clinical Biochemistry

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Original Articles


A Poullis,
SJ Moodie,
L Ang,
CJ Finlayson,
GE Levin and
JD Maxwell


Department of Gastroenterology, St George’s Hospital and Medical School, London SW17 0RE, UK;
Department of Gastroenterology, St George’s Hospital and Medical School, London SW17 0RE, UK;
Department of Gastroenterology, St George’s Hospital and Medical School, London SW17 0RE, UK;
Department of Cellular Pathology, St George’s Hospital and Medical School, London SW17 0RE, UK;
Department of Chemical Pathology, St George’s Hospital and Medical School, London SW17 0RE, UK;
Department of Gastroenterology, St George’s Hospital and Medical School, London SW17 0RE, UK


Background: Hereditary haemochromatosis (HH) is one of the commonestgenetic disorders in European populations. Transferrin saturation(TFS) measurement has been advocated as a phenotypic screeningtest to improve detection. We undertook a prospective studyto examine the value of routine TFS measurement in detectingnew cases of HH in unselected liver clinic attenders.

Methods: Non-fasting TFS was measured in new patients. HH mutationswere determined in those with elevated TFS (>45%) and allwho underwent liver biopsy. Liver biopsy was performed in 349patients, including all found to be C282Y homozygotes or compoundheterozygotes.

Results: Of 667 new patients attending over 5 years, 156 hadTFS >45% and 18 had significant mutations (12 C282Y homozygotesand six compound heterozygotes). Eleven of the 12 C282Y homozygotesidentified had an elevated TFS and 10 had significant hepaticsiderosis. Only two of the six compound heterozygotes had anelevated TFS and hepatic siderosis.

Conclusions: The prevalence of new HH cases in patients of Europeanorigin attending a liver clinic, detected by phenotypic screeningover a 5-year period, was 2.8%. All were identified by a TFScut off >45%, but TFS >60% provided the best combinationof sensitivity and specificity for detecting C282Y homozygosity.


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