TY - JOUR
T1 - Screening for hemochromatosis
T2 - A cost-effectiveness study based on 12,258 patients
AU - Balan, Vijayan
AU - Baldus, William
AU - Fairbanks, Virgil
AU - Michels, Virginia
AU - Burritt, Mary
AU - Klee, George
PY - 1994/8
Y1 - 1994/8
N2 - Background/Aims: 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 highrisk groups have been screened but not patients seeking medical care. Methods: Serum iron levels were determined in consecutive fasting blood samples collected in the morning from 12,258 Mayo Clinic patients. Results: One hundred twenty-seven patients had an initial serum iron concentration >- 180 μg/dL. Eight patients (age, 38-71 years; 7 men and 1 woman) had transferrin saturation >- 62% (range, 84-99) and serum ferritin value >- 400 μg/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 μg/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. Conclusions: 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.
AB - Background/Aims: 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 highrisk groups have been screened but not patients seeking medical care. Methods: Serum iron levels were determined in consecutive fasting blood samples collected in the morning from 12,258 Mayo Clinic patients. Results: One hundred twenty-seven patients had an initial serum iron concentration >- 180 μg/dL. Eight patients (age, 38-71 years; 7 men and 1 woman) had transferrin saturation >- 62% (range, 84-99) and serum ferritin value >- 400 μg/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 μg/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. Conclusions: 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.
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U2 - 10.1016/0016-5085(94)90171-6
DO - 10.1016/0016-5085(94)90171-6
M3 - Article
C2 - 8039622
AN - SCOPUS:0028027230
SN - 0016-5085
VL - 107
SP - 453
EP - 459
JO - Gastroenterology
JF - Gastroenterology
IS - 2
ER -