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Comparison of the Unsaturated Iron-Binding Capacity with Transferrin Saturation as a Screening Test to Detect C282Y Homozygotes for Hemochromatosis in 101 168 Participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study

¹ Department of Medicine, London Health Sciences Center, London, Ontario, Canada;² Department of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC;³ Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN;⁴ MDS Laboratories, Toronto, Ontario, Canada;⁵ Division of Hematology/Oncology, Department of Medicine, University of California, Irvine, CA, and Veterans Affairs Long Beach Healthcare System, Long Beach, CA;⁶ Epidemiology Division, Department of Medicine, University of California, Irvine, CA;⁷ Department of Medicine, Howard University, Washington, DC;⁸ Departments of Microbiology, Medicine, and Epidemiology and International Health, University of Alabama at Birmingham, Birmingham, AL;⁹ Southern Iron Disorders Center, Birmingham, AL;¹⁰ Kaiser Permanente Center for Health Research, Portland, OR;¹¹ Department of Pathology, Oregon Health & Science University, Portland, OR;¹² Division of Blood Diseases and Resources, National Heart Lung and Blood Institute, NIH, US Department of Health and Human Services, Bethesda, MD;

^aaddress correspondence to this author at: Department of Medicine, London Health Sciences Centre, 339 Windermere Rd., London, ON N6A 5A5, Canada; fax 519-858-5114, e-mail padams@uwo.ca

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The diagnosis of hemochromatosis was previously based on a combination of clinical and laboratory assessments that included history and physical examination, increased transferrin saturation (TS) and serum ferritin, liver biopsy, the amount of iron removed by phlebotomy, and pedigree studies identifying other family members with iron overload (1). Since the discovery of the hemochromatosis gene (HFE) in 1996 (2), most studies from referral centers have shown that >90% of typical hemochromatosis patients are homozygous for the C282Y mutation of the HFE gene (3). Before the availability of DNA-based testing, it was assumed that most hemochromatosis patients have increased TS. However, recent population screening studies incorporating HFE genotyping have now shown that many C282Y homozygotes will have a normal TS and may never develop clinical signs and symptoms related to iron overload (4)(5)(6)(7)(8). TS has been recommended in many studies as the most clinically useful screening test for hemochromatosis because it is widely available and may be increased even in young adults with a genetic predisposition to hemochromatosis. Another potential advantage over DNA-based testing as an initial screening test is that TS may detect many types of iron overload other than those associated with HFE mutations. In addition, screening for iron overload instead of performing DNA-based testing may reduce the risks of potential genetic discrimination that some authors suggest is associated with identification of a C282Y homozygote with normal serum iron tests (9)(10)(11). The TS is a 2-step assay in which serum iron is the numerator and the denominator is either total iron-binding capacity (TIBC), [serum iron + unsaturated iron-bonding capacity (UIBC)] or an adjusted serum transferrin. The UIBC is a 1-step automated colorimetric assay that has been reported . . . [Full Text of this Article]

The following articles in journals at HighWire Press have cited this article:

				A. Asberg, K. Thorstensen, W. Irgens, and K. Hveem Screening for hemochromatosis Blood, April 1, 2008; 111(7): 3896 - 3896. [Full Text] [PDF]