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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Prevalence of hereditary hemochromatosis in 16031 primary care patients.

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.[1]


  1. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Phatak, P.D., Sham, R.L., Raubertas, R.F., Dunnigan, K., O'Leary, M.T., Braggins, C., Cappuccio, J.D. Ann. Intern. Med. (1998) [Pubmed]
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