Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients

Current emphasis in hemochromatosis has focused on early detection and treatment to prevent permanent liver damage and hepatocellular carcinoma. Thus far, only normal population and high-risk groups have been screened but not patients seeking medical care.

Serum iron levels were determined in consecutive fasting blood samples collected in the morning from 12,258 Mayo Clinic patients.

One hundred twenty-seven patients had an initial serum iron concentration > or = 180 micrograms/dL. Eight patients (age, 38-71 years; 7 men and 1 woman) had transferrin saturation > or = 62% (range, 84-99) and serum ferritin value > or = 400 micrograms/L (range, 457-4004) with no other explanation for the abnormal iron test results. Three patients (2 male and 1 female) had markedly elevated hepatic iron concentration (range, 11,080-29,719 micrograms/g dry wt) and hepatic iron index (range, 2.9-8.4) indicative of homozygous hemochromatosis. One patient who refused liver biopsy had 7 g of iron removed by phlebotomy and is likely homozygous. Two patients had hepatic iron indices < 1.5 and are probably heterozygous. The genetic status of 1 patient is indeterminate, and 1 patient with normal hepatic iron concentration and hepatic iron index had chronic active hepatitis. None had cirrhosis, diabetes, or cardiomyopathy. No patients with hemochromatosis would have been detected without this study.

The yield in this study, 0.33 cases of 1000 screened, is approximately one tenth of the predicted homozygote frequency by recent estimates. Even at this yield, screening appears cost-effective.