Background: Hereditary haemochromatosis (HH) is one of the commonest
genetic disorders in European populations. Transferrin saturation (TFS) measurement
has been advocated as a phenotypic screening test to improve detection. We undertook
a prospective study to examine the value of routine TFS measurement in detecting new
cases of HH in unselected liver clinic attenders.
Methods: Non-fasting TFS was measured in new patients. HH mutations were
determined in those with elevated TFS (>45%) and all who underwent liver biopsy.
Liver biopsy was performed in 349 patients, including all found to be C282Y
homozygotes or compound heterozygotes.
Results: Of 667 new patients attending over 5 years, 156 had TFS >45%
and 18 had significant mutations (12 C282Y homozygotes and six compound
heterozygotes). Eleven of the 12 C282Y homozygotes identified had an elevated TFS and
10 had significant hepatic siderosis. Only two of the six compound heterozygotes had
an elevated TFS and hepatic siderosis.
Conclusions: The prevalence of new HH cases in patients of European
origin attending a liver clinic, detected by phenotypic screening over a 5-year
period, was 2.8%. All were identified by a TFS cut off >45%, but TFS >60%
provided the best combination of sensitivity and specificity for detecting C282Y
homozygosity.
