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Ann Intern Med. 1998 Dec 1;129(11):954-61.

Prevalence of hereditary hemochromatosis in 16031 primary care patients.

Author information

1
Mary M. Gooley Hemophilia Center, Inc., Rochester General Hospital, and the University of Rochester School of Medicine and Dentistry, New York 14621, USA.

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:

16031 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 microg/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.

PMID:
9867748
[Indexed for MEDLINE]

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