HEMOCHROMATOSIS SCREENING IN ASYMPTOMATIC AMBULATORY MEN 30 YEARS OF AGE AND OLDER

OBJECTIVE: TO perform a cost-benefit analysis of screening for hereditary hemochromatosis. PATIENTS AND METHODS: A total of 3,977 consecutive men greater than or equal to 30 years of age who presented for routine health checkups at a HEALTH maintenance organization medical center were screened for hereditary hemochromatosis by measuring transferrin saturation. Subjects with repeated transferrin saturation greater than or equal to 62% and ferritin level greater than or equal to 500 ng/mL (greater than or equal to 500 mu g/L) were referred for liver biopsy. Subjects with transferrin saturation <15% were referred for evaluation. Laboratory testing, screening, and abnormal screening test evaluation procedures were identified by chart review. RESULTS: Forty patients had transferrin saturation greater than or equal to 62%. One hundred seventy-two had transferrin saturation <15%. Eight patients with hemochromatosis were identified. The 3 patients most seriously affected had hepatic iron concentrations >250 mu mol/g dry weight. Two of them had hepatic fibrosis. Seven cases of hemochromatosis were found among 1,974 white subjects who were screened. Only 1 case was found among the remaining subjects. CONCLUSIONS: Our observations support routine screening with transferrin saturation for white men greater than or equal to 30 years of age.