The role of transferrin saturation as a screening test for hereditary haemochromatosis in an irish population seeking medical care

Abstract

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.