Objective: To evaluate the efficacy of identifying presymptomatic hereditary haemochromatosis through population based screening.
Design: Review the hereditary pattern, prevalence, and clinical manifestations of haemochromatosis. Estimate the detection and false positive rates associated with available screening and diagnostic tests. Develop examples of screening protocols and other components that would be necessary for proper implementation. Identify potential barriers and objections.
Conclusions: Hereditary haemochromatosis, an autosomal recessive disorder with a prevalence of three to five per thousand in the general population, is associated with a wide variety of clinical manifestations, usually beginning in mid to late adult years. Identifying and treating this disorder after symptoms appear can arrest its progress but usually cannot reverse existing damage to joints, liver, pancreas, pituitary gland, and other organs. Measuring transferrin saturation in serum is now known to be a reliable screening test for haemochromatosis when applied to a general population of healthy adults, detecting about 80% of cases, with a 0.3% false positive rate. Liver biopsy with iron staining and total iron concentration is the recommended diagnostic test for subjects with positive screening tests. Treatment with phlebotomy can then prevent manifestations. Effective systematic identification and management of presymptomatic haemochromatosis in the general population is best accomplished within the framework of an organised screening programme. Potential barriers include accessibility of young adult populations and attitudes in the health community that severe clinical manifestations are relatively uncommon. It is recommended that pilot programmes be undertaken to determine the feasibility of introducing screening for haemochromatosis as part of routine health care.