Background: Genetic studies have indicated a high prevalence of
mutations for hereditary haemochromatosis (HH) in Irish populations. Given the high
cost of genetic screening and the ethical implications thereof, we assessed the role
of transferrin saturation (TS) as a primary screening test for HH in an Irish
population seeking medical care.
Methods: TS and ferritin were measured on 330 consecutive blood
specimens received in the laboratory for routine screening. Patients with TS > 45%
were genetically screened for the C282Y and H63D mutations.
Results: Twenty-six patients had TS values > 45%. Of these, specimens
were available for genetic screening on 20 patients. Three previously undiagnosed
patients were found to be C282Y homozygotes and one a compound heterozygote
(C282Y/H63D). The prevalence of C282Y homozygotes was 0·93%, which is similar to the
reported prevalence found in Irish populations by genetic screening.
Conclusion: Given the number of positive findings in this study, we
conclude that, in the absence of a national programme, TS could be used as part of a
health-screening panel in the Irish setting. Patients expressing iron overload would
be detected before organ damage occurred, leading to less severe clinical disease and
better patient prognosis.
