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 ≥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 ≥62% and ferritin level ≥500 ng/mL (≥500 μg/L) were referred for liver biopsy. Subjects wim 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 ≥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 μmol/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 ≥30 years of age.