Automated measurement of unsaturated iron binding capacity is an effectivescreening strategy for C282Y homozygous haemochromatosis

Background-C282Y hereditary haemochromatosis is an appropriate condition fo r population screening. Transferrin saturation, the best screening test to date, is relatively expensive, labour intensive, and cannot be automated. U nsaturated iron binding capacity is a surrogate marker of transferrin satur ation and its measurement can be automated. Aims-To evaluate a screening strategy for C282Y hereditary haemochromatosis in a tertiary hospital environment based on unsaturated iron binding capac ity as the initial screening test. Methods-Measurement of unsaturated iron binding capacity was adapted to the main laboratory analyser. An unsaturated iron binding capacity of less tha n 30 mu mol/l was identified as an appropriate decision point and 5182 cons ecutive subjects were screened over 28 consecutive days. Results-Of those screened, 697 had an unsaturated iron binding capacity les s than 30 mu mol/l. Of these, transferrin saturation was greater than 40% i n 294. A total of 227 were able to be genotyped for the C282Y mutation. Nin e subjects homozygous for C282Y were identified. Based on full cost recover y, affected persons were identified at a cost of Aus$2268.77 per case (appr oximately US$1496). Conclusion-Automated measurement of unsaturated iron binding capacity enabl es a cost effective, large scale population screening programme for C282Y h ereditary haemochromatosis to be developed.