Hereditary hemochromatosis: Gene discovery and its implications for population-based screening

JAMA

Volumn 280, Issue 2, 1998, Pages 172-178

  Burke, Wylie ^a   Thomson, Elizabeth ^c   Khoury, Muin J ^d   McDonnell, Sharon M ^e   Press, Nancy ^f,q   Adams, Paul C ^g   Barton, James C ^h   Beutler, Ernest ⁱ   Brittenham, Gary ^j   Buchanan, Allen ^k,r   Clayton, Ellen Wright ^l   Cogswell, Mary E ^e   Meslin, Eric M ^c,p   Motulsky, Arno G ^a,b,t   Powell, Lawrie W ^m   Sigal, Elliott ^n,s,t   Wilfond, Benjamin S ^o   Collins, Francis S ^c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^e NATIONAL CENTER FOR CHRONIC DISEASE PREVENTION AND HEALTH PROMOTION   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF WESTERN ONTARIO   (Canada)

^h SOUTHERN IRON DISORDERS CENTER   (United States)

ⁱ SCRIPPS RESEARCH INSTITUTE   (United States)

^j METROHEALTH MEDICAL CENTER   (United States)

^k UNIVERSITY OF WISCONSIN MADISON   (United States)

^l VANDERBILT UNIVERSITY LAW SCHOOL   (United States)

^m UNIVERSITY OF QUEENSLAND   (Australia)

ⁿ Mercator Genetics Inc   (United States)

^o UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^p Natl Bioethics Advisory Committee   (United States)

^q OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^r UNIVERSITY OF ARIZONA   (United States)

^s BRISTOL MYERS SQUIBB   (United States)

^t Mercator Genetics

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENVIRONMENTAL FACTOR; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HEALTH CARE POLICY; HEMOCHROMATOSIS; HUMAN; PENETRANCE; PREVALENCE; PRIORITY JOURNAL; REVIEW; SOCIAL PSYCHOLOGY;

EID: 0032496881     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.280.2.172     Document Type: Review

References (61)

1. Adams PC, Valberg LS. Evolving expression of hereditary hemochromatosis. Semin Liver Dis. 1996;16:47-54.
2. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Stromeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996;110:1107-1119.
3. Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms and age in 410 patients with hemochromatosis. Hepatology. 1997;25:162-166.
4. 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;107:453-459.
5. Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med. 1994; 154:769-776.
6. 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;318:1355-1362.
7. 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;109:177-186.
8. 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;98:464-468.
9. 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; 245:139-200.
10. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13: 399-408.
11. Bodmer JG, Parham P, Albert ED, Marsh SG on behalf of the WHO Nomeclature Committee for Factors of the HLA System. Putting a hold on "HLA-H." Nat Genet. 1997;15:234-235.
12. Powell LW, Burt MJ, Halliday JW, Jazwinska EC. Hemochromatosis: genetics and pathogenesis. Semin Liver Dis. 1996;16:55-63.
13. Bothwell TH, Charlton RW, Motulsky AG. Hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill Book Co; 1995: chap 69.
14. Motulsky AG, Wolff RK. Update on Hemochromatosis, addendum. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease [book on CD-ROM]. New York, NY: McGraw-Hill Book Co; 1997.
15. Bacon BR. Diagnosis and management of hemochromatosis. Gastroenterology. 1997;113:995-999.
16. Ludwig J, Batts KP, Moyer TP, Baldus WP, Fairbanks VF. Liver biopsy diagnosis of homozygous hemochromatosis: a diagnostic algorithm. Mayo Clin Proc. 1993;68:263-267.
17. Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of haemochromatosis amongst asymptomatic Australians. Br J Haematol. 1990;74:525-530.
18. Smith BN, Kantrowitz W, Grace ND, et al. Prevalence of hereditary hemochromatosis in a Massachusetts corporation: is Celtic origin a risk factor? Hepatology. 1997;25:1439-1446.
19. Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut. 1976;17:332-334.
20. Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis: demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med. 1977;297:1017-1021.
21. Haddow JE, Ledue TB. Preventing manifestations of hereditary hemochromatosis through population based screening. J Med Screen. 1994;1:16-21.
22. Bradley LA, Haddow JE, Palomaki GE. Population screening for haemochromatosis: expectations based on a study of relatives of symptomatic probands. J Med Screen. 1996;3:171-177.
23. Moirand R, Adams PC, Bicheler V, Brissot P, Deugnier Y. Clinical features of genetic hemochromatosis in women compared with men. Ann Intern Med. 1997;127:105-110.
24. Edwards CQ, Griffen LM, Kushner JP. The morbidity of hemochromatosis among clinically unselected homozygotes: preliminary report. Adv Exp Med Biol. 1994;356:303-308.
25. Adams PC. Intrafamilial variation in hereditary hemochromatosis. Dig Dis Sci. 1992:37:361-363.
26. Adams PC, Agnew S, Alcoholism in hereditary hemochromatosis revisited: prevalence and clinical consequences among homozygous siblings. Hepatology. 1996;23:724-727.
27. Centers for Disease Control and Prevention. Iron overload disorders among Hispanics - San Diego, Calif, 1995. MMWR Morb Mortal Wkly Rep. 1996;45:991-993.
28. Baer D. Hereditary iron overload and African Americans. Am J Med. 1996;101:5-8.
29. Barton JC, Edwards CQ, Bertoli LF, Shroyer TW, Hudson SL. Iron overload in African Americans. Am J Med. 1995;99:616-623.
30. Wurapa RK, Gordeuk VR, Brittenham GM, Khiyami A, Schecter GP, Edwards GQ. Primary iron overload in African Americans. Am J Med. 1996; 101:9-18.
31. Gordeuk V, Mukiibi J, Hasstedt SJ, et al. Iron overload in Africa: interaction between a gene and dietary iron content. N Engl J Med. 1992;326: 95-100.
32. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis. 1996;22:187-194.
33. Barton JC, Shih WW, Sawada-Hirai R, et al. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol Dis. 1997;23:135-145.
34. Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet. 1997;60: 828-832.
35. Jazwinska EC, Cullen LM, Busfield F, et al. Hemochromatosis and HLA-H. Nat Genet. 1996;13:399-408.
36. Jouanolle AM, Gandon G, Jezequel P, et al. Hemochromatosis and HLA-H. Nat Genet. 1996;14:251-252.
37. Borot N, Roth M, Malfroy L, et al. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics. 1997; 45:320-324.
38. Beutler E, Gelbart T. HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Mol Dis. 1997;23:95-98.
39. Adams PC, Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology. 1998; 114: 319-323.
40. UK Haemochromatosis Consortium. A simple genetic test identifies 90 percent of UK patients with haemochromatosis. Gut. 1997;41:841-844.
41. Adams PC, Campion ML, Gandon G, LeGall JY, David V, Jouanolle AM. Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families. Hepatology. 1997;26:986-990.
42. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet. 1997; 34:275-278.
43. Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 1997;60:762-764.
44. Beutler E. Genetic irony bey ond haemochromatosis: clinical effects of HLA-H mutations. Lancet. 1997;349:296-297.
45. Beutler E, West C, Gelbart T. HLA-H and associated proteins in patients with hemochromatosis. Mol Med. 1997;3:397-402.
46. Tay GK, Leelayuwat C, Chorney MJ, et al. The MHC contains multiple genes potentially relevant to hemochromatosis. Immunogenetics. 1997;45: 336-340.
47. Cogswell ME, McDonnell SM, Khoury MJ, et al. Iron overload, public health, and genetics: evidence for population-based testing for hemochromatosis. Ann Intern Med. In press.
48. US Preventive Services Task Force. Guide to Clinical Preventive Services. 2nd ed. Baltimore, Md: Williams & Wilkins; 1996.
49. Adams PC, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis comparing genotyping to phenotyping. Gastroenterology. 1997;112:1207.
50. Alper JS, Geller LN, Barash CI, Billings PR, Laden V, Natowicz MR. Genetic discrimination and screening for hemochromatosis. J Public Health Policy. 1994;15:345-358.
51. Hudson KL, Rothenberg KH, Andrews LB, Kahn MJ, Collins FS. Genetic discrimination and health insurance: an urgent need for reform. Science. 1995;270:391-393.
52. Institute of Medicine. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: National Academy Press; 1994.
53. Rothenberg KH. Genetic information and health insurance: state legislative approaches. J Law Med Ethics. 1995;23:312-319.
54. Holtzma NA, Watson MS eds. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Baltimore, Md: Johns Hopkins University Press; 1998.
55. Scriver CR, Clow CL. Phenylketonuria: epitome of human biochemical genetics. N Engl J Med. 1980; 303:1394-1399.
56. Eisensmith RC, Woo SLC. Molecular basis of phenylketonuria and related hyperphenylalanemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum Mutat. 1992; 1:13-23.
57. Tyfield LA, Zschocke J, Stephenson A, et al. Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects. J Med Genet. 1995;32:867-870.
58. Zielenski J, Tsui LC. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet. 1995; 29:777-807.
59. Kerem B, Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur J Hum Genet. 1996;4:65-73.
60. Kiesewetter S, Macek M, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 1993;5:274-278.
61. Wilson JMG, Junger G. The Principles and Practice of Screening for Disease. Public Health Paper 34. Geneva, Switzerland: World Health Organization; 1968.