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Prevalence of Hereditary Hemochromatosis in 16 031 Primary Care Patients

Pradyumna D. Phatak, MD; Ronald L. Sham, MD; Richard F. Raubertas, PhD; Karin Dunnigan, MD; Mary Theresa O'Leary, RN, MS; Caroline Braggins, MBA; and Joseph D. Cappuccio, MD
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From the Mary M. Gooley Hemophilia Center, Inc., Rochester General Hospital, and the University of Rochester School of Medicine and Dentistry, Rochester, New York. Acknowledgments: The authors thank the primary care physicians at Rochester General Hospital, Rochester, New York, without whose participation this study could not have been successfully conducted. Grant Support: By grant RO1 HS07616 from the Agency for Health Care Policy and Research. Requests for Reprints: Pradyumna D. Phatak, MD, Hematology Unit, Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621. Current Author Addresses: Drs. Phatak, Sham, Dunnigan, and Cappuccio and Ms. O'Leary and Ms. Braggins: Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621. Dr. Raubertas: Department of Biostatistics, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642. Note: This article is one of a series of articles comprising an Annals of Internal Medicine supplement entitled “Iron Overload, Public Health, and Genetics.” To view a complete list of the articles included in this supplement, please view its Table of Contents.

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1998;129(11_Part_2):954-961. doi:10.7326/0003-4819-129-11_Part_2-199812011-00006
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Background: Despite evidence from screening studies in northern European populations, the prevalence of hemochromatosis in primary care populations in the United States remains speculative.

Objective: To establish the feasibility of screening for hemochromatosis and to estimate the prevalence of hemochromatosis in a large primary care population.

Design: Cross-sectional prevalence study.

Setting: 22 primary care practices in the Rochester, New York, area.

Patients: 16 031 ambulatory patients without a previous diagnosis of hemochromatosis.

Intervention: Serum transferrin saturation screening tests were offered to all adult patients in participating primary care practices.

Measurements: Patients with a serum transferrin saturation of 45% or more on initial testing had a serum transferrin saturation test done under fasting conditions and had serum ferritin levels measured. Those who had a fasting serum transferrin saturation of 55% or more and a serum ferritin level of 200 µg/L or more with no other apparent cause were presumed to have hemochromatosis and were offered liver biopsy to confirm the diagnosis.

Results: 25 patients had biopsy-proven hemochromatosis; 22 patients met the clinical criteria for hemochromatosis but declined liver biopsy and were classified as having clinically proven hemochromatosis; and 23 patients had a serum transferrin saturation of 55% or more with no identifiable cause, indicating probable hemochromatosis. The prevalence of clinically proven and biopsy-proven hemochromatosis combined was 4.5 per 1000 (95% CI, 3.3 to 5.8 per 1000) in the total sample and 5.4 per 1000 (CI, 4.0 to 7.1 per 1000) in white persons. The prevalence was higher in men than in women (ratio, 1.8:1).

Conclusions: Hemochromatosis is relatively common among white persons. Routine screening of white persons for hemochromatosis should be considered by primary care physicians.


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Figure 1.
Screening protocol.Figure 3

In practice, liver biopsy was recommended for some patients who did not meet the strict study criteria for liver biopsy (see ).

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Figure 2.
Screened patients.

The number of patients who had positive results on an initial screening test for hemochromatosis and the results of subsequent testing are shown. Some patients dropped out at each stage. TS = transferrin saturation.

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Figure 3.
Evaluated patients.

The outcome, based on transferrin saturation and serum ferritin level, of the 255 evaluated patients is shown. Three patients who met the study criteria for liver biopsy had biopsy deferred because of comorbid conditions and received a diagnosis of clinically proven hemochromatosis. Of 21 patients who met the study criteria for liver biopsy and underwent biopsy, 18 had biopsy-proven hemochromatosis and 1 had clinically proven hemochromatosis (see text for details). Thirteen patients with a transferrin saturation of 45% to 55% had liver biopsy because of unexplained elevations in the serum ferritin level. Seven of the 13 had biopsy-proven hemochromatosis.

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