RSS Feeds
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
- 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.
Abstract
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.
- Copyright ©2004 by the American College of Physicians
