Hereditary hemochromatosis - Benefits of screening;Arvelig hemokromatose - Nytten av screening

Norsk Epidemiologi

Volumn 16, Issue 1, 2006, Pages 23-28

  Åsberg, Arne ^a  

^a TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

HFE PROTEIN; IRON;

COST EFFECTIVENESS ANALYSIS; DISEASE SEVERITY; GENE MUTATION; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; NORWAY; PROPHYLAXIS; REVIEW; SEX DIFFERENCE;

EID: 33644955256     PISSN: 08032491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (48)

1. Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med 2004; 350 (23): 2383-97.
2. Cardoso EM, Stal P, Hagen K, et al. HFE mutations in patients with hereditary haemochromatosis in Sweden. J Intern Med 1998; 243 (3): 203-8.
3. Åsberg A, Hveem K, Thorstensen K, et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001; 36 (10): 1108-15.
4. Distante S, Berg JP, Lande K, Haug E, Bell H. High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol 1999; 34 (5): 529-34.
5. What is screening? UK National Screening Committee. (Accessed 29. november, 2005, at http://www.nsc.nhs.uk/whatscreening/whatscreen_ind.htm.)
6. Sackett DL, Haynes RB, Tugwell P. Clinical epidemiology. A basic science for clinical medicine. Boston: Little, Brown and Company, 1985.
7. Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991; 101 (2): 368-72.
8. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996; 110 (4): 1107-19.
9. Haddow JE, Ledue TB. Preventing manifestations of hereditary haemochromatosis through population based screening. J Med Screen 1994; 1 (1): 16-21.
10. Cogswell ME, McDonnell SM, Khoury MJ, Franks AL, Burke W, Brittenham G. Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening. Ann Intern Med 1998; 129 (11): 971-9.
11. Barton JC, McDonnell SM, Adams PC, et al. Management of hemochromatosis. Hemochromatosis Management Working Group. Ann Intern Med 1998; 129 (11): 932-9.
12. Brissot P, Guyader D, Loreal O, et al. Clinical aspects of hemochromatosis. Transfus Sci 2000; 23 (3): 193-200.
13. Powell LW, George DK, McDonnell SM, Kowdley KV. Diagnosis of hemochromatosis. Ann Intern Med 1998; 129 (11): 925-31.
14. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation hi the USA. Lancet 2002; 359 (9302): 211-8.
15. Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352 (17): 1769-78.
16. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999; 341 (10): 718-24.
17. Bulaj ZJ, Ajioka RS, Phillips JD, et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000; 343 (21): 1529-35.
18. Fargion S, Mandelli C, Piperno A, et al. Survival and prognostic factors hi 212 Italian patients with genetic hemochromatosis. Hepatology 1992; 15 (4): 655-9.
19. Wojcik JP, Speechley MR, Kertesz AE, Chakrabarti S, Adams PC. Natural history of C282Y homozygotes for hemochromatosis. Can J Gastroenterol 2002; 16 (5): 297-302.
20. Willis G, Bardsley V, Fellows IW, Lonsdale R, Wimperis JZ, Jennings BA. Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study. BMC Gastroenterol 2005; 5 (1): 17.
21. Åsberg A, Hveem K, Kruger O, Bjerve KS. Persons with screening-detected haemochromatosis: as healthy as the general population? Scand J Gastroenterol 2002; 37 (6): 719-24.
22. Andersen RV, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG. Hemochromatosis mutations in the general population: iron overload progression rate. Blood 2004; 103 (8): 2914-9.
23. Olynyk JK, Hagan SE, Cullen DJ, Beilby J, Whittall DE. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc 2004; 79 (3): 309-13.
24. Åsberg A, Tretli S, Hveem K, Bjerve KS. Benefit of population-based screening for phenotypic hemochromatosis in young men. Scand J Gastroenterol 2002; 37 (10): 1212-9.
25. Schmitt B, Golub RM, Green R. Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians. Ann Intern Med 2005; 143 (7): 522-36.
26. Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005; 366 (9482): 314-6.
27. Delatycki M, Allen K, Williamson R. Insurance agreement to facilitate genetic testing. Lancet 2002; 359 (9315): 1433.
28. Buffone GJ, Beck JR. Cost-effectiveness analysis for evaluation of screening programs: hereditary hemochromatosis. Clin Chem 1994; 40 (8): 1631-6.
29. Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med 1994; 154 (7): 769-76.
30. Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterology 1995; 109 (1): 177-88.
31. Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta 1996; 245 (2): 139-200.
32. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988; 318 (21): 1355-62.
33. Phatak PD, Sham RL, Raubertas RF, et al. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann Intern Med 1998; 129 (11): 954-61.
34. Åsberg A. Epidemiological studies in hereditary hemochromatosis. Trondheim: Norwegian University of Science and Technology, 2002.
35. Nisselle AE, Delatycki MB, Collins V, et al. Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis. Clin Genet 2004; 65 (5): 358-67.
36. McDonnell SM, Hover A, Gloe D, Ou CY, Cogswell ME, Grummer-Strawn L. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri. Am J Med 1999; 107 (1): 30-7.
37. Niederau C, Niederau CM, Lange S, et al. Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany. Ann Intern Med 1998; 128 (5): 337-45.
38. Gason AA, Aitken MA, Metcalfe SA, Allen KJ, Delatycki MB. Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis. Clin Genet 2005; 67 (2): 166-74.
39. Lov om humanmedisinsk bruk av bioteknologi m.m. (bioteknologiloven). Lovdata, 2004. (Accessed 17. november, 2005, at http://www.lovdata.no/cgi-wift/ wiftldles?doc=/usr/www/lovdata/all/nl-20031205-100.html&dep=alle&kort+, +titt=bioteknologi&).
40. Adams PC, Kertesz AE, McLaren CE, 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. Hepatology 2000; 31 (5): 1160-4.
41. Distante S, Berg JP, Lande K, Haug E, Bell H. HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis. Gut 2000; 47 (4): 575-9.
42. Wiggers P, Dalhoj J, Kiaer H, et al. Screening for haemochromatosis: prevalence among Danish blood donors. J Intern Med 1991; 230 (3): 265-70.
43. Bell H, Thordal C, Raknerud N, et al. Prevalence of hemochromatosis among first-time and repeat blood donors in Norway. J Hepatol 1997; 26 (2): 272-9.
44. Baer DM, Simons JL, Staples RL, Rumore GJ, Morton CJ. Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older. Am J Med 1995; 98 (5): 464-8.
45. Balan V, Baldus W, Fairbanks V, Michels V, Burritt M, Klee G. Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients. Gastroenterology 1994; 107 (2): 453-9.
46. Hallberg L, Bjorn-Rasmussen E, Jungner I. Prevalence of hereditary haemochromatosis in two Swedish urban areas. J Intern Med 1989; 225 (4): 249-55.
47. Hickman PE, Hourigan LF, Powell LW, et al. Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis. Gut 2000; 46 (3): 405-9.
48. McDonnell SM, Phatak PD, Felitti V, Hover A, McLaren GD. Screening for hemochromatosis in primary care settings. Ann Intern Med 1998; 129 (11): 962-70.