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

Clinical Chemistry - Tập 51 Số 6 - Trang 1048-1052 - 2005
Paul C. Adams1, David M. Reboussin2, C Leiendecker‐Foster3, G C Moses4, Gordon D. McLaren5,6, Christine E. McLaren7, Fitzroy W. Dawkins8,9, Ishmael Kasvosve8, Ron T. Acton10, James C. Barton11, Dan Zaccaro2, Emily Harris12, Richard D. Press13, Henry Chang14, John H. Eckfeldt3
1Department of Medicine, London Health Sciences Center, London, Ontario, Canada
2Department of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC
3Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN
4MDS Laboratories, Toronto, Ontario, Canada
5Department of Veterans Affairs
6Division of Hematology/Oncology, Department of Medicine, University of California, Irvine, CA, and Veterans Affairs Long Beach Healthcare System, Long Beach, CA
7Epidemiology Division, Department of Medicine, University of California, Irvine, CA,
8Department of Medicine, Howard University, Washington, DC
9Howard University
10Departments of Microbiology, Medicine, and Epidemiology and International Health, University of Alabama at Birmingham, Birmingham, AL,
11Southern Iron Disorders Center, Birmingham, AL
12Kaiser Permanente Center for Health Research, Portland, OR
13Department of Pathology, Oregon Health & Science University, Portland, OR
14Division of Blood Diseases and Resources, National Heart Lung and Blood Institute, NIH, US Department of Health and Human Services, Bethesda, MD

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Pietrangelo A. Hereditary hemochromatosis: a new look at an old disease. N Engl J Med2004;350:2383-2397.

Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet1996;13:399-408.

Burke W, Thomson E, Khoury M, McDonnell S, Press N, Adams P, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA1998;280:172-178.

Beutler E, Felitti V, Koziol J, Ho N, Gelbart T. Penetrance of the 845G to A (C282Y) HFE hereditary haemochromatosis mutation in the U S A. Lancet2002;359:211-218.

Asberg A, Hveem K, Thorstensen K, Ellekjaer E, Kannelonning K, Fjosne U, et al. Screening for hemochromatosis—high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol2001;36:1108-1115.

Adams PC. Non-expressing C282Y homozygotes for hemochromatosis: minority or majority of cases?. Mol Genet Metab2000;71:81-86.

Andersen R, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard B. Hemochromatosis mutations in the general population: iron overload progression rate. Blood2004;103:2914-2919.

Yamashita C, Adams PC. Natural history of the C282Y homozygote of the hemochromatosis gene (HFE) with a normal serum ferritin level. Clin Gastroenterol Hepatol2003;1:388-391.

Tavill AS. Diagnosis and management of hemochromatosis. Hepatology2001;33:1321-1328.

Shaheen N, Lawrence L, Bacon B, Barton J, Barton N, Galanko T, et al. Insurance, employment, and psychosocial consequences of a diagnosis of hereditary hemochromatosis in subjects without end-organ damage. Am J Gastroenterol2003;98:1175-1180.

Barash C. Genetic discrimination and screening for hemochromatosis: then and now. Genet Test2000;4:213-218.

Adams PC, Kertesz AE, McLaren C, Barr R, Bamford A, Chakrabarti S. Population screening for hemochromatosis: a comparison of unbound iron binding capacity, transferrin saturation and C282Y genotyping in 5,211 voluntary blood donors. Hepatology2000;31:1160-1164.

Hickman P, Hourigan L, Powell LW, Cordingley F, Dimenski G, Ormiston BSJFW, et al. Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous hemochromatosis. Gut2000;46:405-409.

Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Hereditary hemochromatosis. Clin Chim Acta1996;245:139-200.

Adams PC, Bhayana V. Unsaturated iron binding capacity: a screening test for hemochromatosis?. Clin Chem2000;46:1870-1871.

McLaren C, Barton J, Adams P, Harris E, Acton R, Press N, et al. Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci2003;325:53-62.

Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, et al. Hemochromatosis and iron-overload screening of a racially diverse population. N Engl J Med2005;352:1769-1778.

DeLong E, DeLong D, Clarke-Pearson D. Comparing the areas under two or more correlated receiver operating characteristic curves: a non-parametric approach. Biometrics1988;44:837-844.

Henderson AR. Assessing test accuracy and its clinical consequences: a primer for receiver operating characteristic curve analysis. Ann Clin Biochem1993;30:521-539.

Obuchowski N, Lieber M, Wians F. ROC curves in clinical chemistry: Uses, misuses, and possible solutions. Clin Chem2004;50:1118-1125.

Zweig M, Campbell G. Receiver-operating characteristic (ROC) plots: a fundamental evaluation tool in clinical medicine. Clin Chem1993;39:561-577.

Pietrangelo A. Non-HFE hemochromatosis. Hepatology2004;39:21-29.

Guillygomarch A, Jacquelinet C, Moirand R, Vincent Q, David V, Deugnier Y. Circadian variations of transferrin saturation levels in iron-overloaded patients: implications for screening of C282Y-linked haemochromatosis. Br J Haematol2003;120:359-363.

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Clinical Chemistry

Tập 51 Số 6

1048-1052

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