Screening for hemochromatosis: Patients with liver disease, families, and populations

Current Gastroenterology Reports

Volumn 6, Issue 1, 2004, Pages 44-51

  Galhenage, Sumedha P ^a   Viiala, Charlie H ^a   Olynyk, John K ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; FERRITIN; HEPCIDIN; HFE PROTEIN; TRANSFERRIN;

DISEASE CLASSIFICATION; DISEASE COURSE; FERRITIN BLOOD LEVEL; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HIGH RISK POPULATION; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; IRON STORAGE; LIFE EXPECTANCY; LIVER BIOPSY; LIVER DISEASE; PHENOTYPE; POPULATION GENETICS; PREVALENCE; REVIEW; RISK ASSESSMENT; AGE DISTRIBUTION; AGED; COMPARATIVE STUDY; FEMALE; GENETICS; MALE; MASS SCREENING; MIDDLE AGED; PEDIGREE; PROGNOSIS; SEX RATIO;

AGE DISTRIBUTION; AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMOCHROMATOSIS; HUMANS; LIVER DISEASES; MALE; MASS SCREENING; MIDDLE AGED; PEDIGREE; PREVALENCE; PROGNOSIS; RISK ASSESSMENT; SEX DISTRIBUTION;

EID: 1442331955     PISSN: 15228037     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11894-004-0025-2     Document Type: Review

References (51)

1. Olynyk JK, Bacon BR: Hereditary haemochromatosis: detecting and correcting iron overload. Postgrad Med 1994, 96:151-156.
2. Simon M, Bourel M, Fauchet R, et al.: Idiopathic haemochromatosis: demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 1977, 297:1017-1021.
3. Feder JN, Gnirke A, Thomas W, et al.: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996,13:399-409.
4. Olynyk JK: Hereditary haemochromatosis: diagnosis and management in the gene era. Liver 1999, 19:73-80.
5. Bomford A: Genetics of hemochromatosis. Lancet 2002,360:1673-1681.
6. Roetto A, Papanikolaou G, Politou M, et al.: Mutant antimicrobial peptide is associated with severe juvenile hemochromatosis. Nat Genet 2003, 33:21-22.
7. Trinder D, Fox C, Vautier G, et al.: Molecular pathogenesis of iron overload. Gut 2002,51:290-295.
8. Kato J, Fujikawa K, Kanda M, et al.: A mutation in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001, 69:191-197.
9. Bulaj ZJ, Ajioka RS, Phillips JD, et al.: Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000, 343:1529-1535.
10. Willis G, Wimperis JZ, Lonsdale R, et al.: Incidence of liver disease in people with HFE mutations. Gut 2000, 46:401-404.
11. Gochee PA, Powell LW, Cullen DJ, et al.: A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002, 122:646-651.
12. Bacon BR: Hemochromatosis: diagnosis and management. Gastroenterology 2001,120:718-725.
13. Mura C, Raguenes O, Ferec C: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999, 93:2502-2505.
14. Tavill AS: Diagnosis and management of hemochromatosis. Hepatology 2001, 33:1321-1328.
15. Niederau C, Fischer R, Purschel A, et al.: Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996,110:1107-1119.
16. Ryan E, Byrnes V, Coughlan B, et al.: Underdiagnosis of hereditary hemochromatosis: lack of presentation or penetration? Gut 2002, 51:108-112.
17. Asberg A, Hveem K, Thorstensen E, et al.: High prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001, 36:1108-1115.
18. Waalen J, Felitti V, Gelbart T, et al.: Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene. Mayo Clin Proc 2002, 77:522-530.
19. Basset ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology 1986, 6:24-29.
20. Olynyk JK, Cullen DJ, Aquilia BA, et al.: A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999, 341:718-724.
21. Beutler E, Felitti VJ, Koziol JA, et al.: Penetrance of 845G->A (C282Y) HFE hereditary hemochromatosis mutation in the USA. Lancet 2002, 359:211-218.
22. McCune CA, Al-Jader LN, May A, et al.: Hereditary hemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload. Hum Genet 2002, 111:538-543.
23. Crawford DH, Jazwinska EC, Cullen LM, et al.: Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 1998, 114:1003-1008.
24. Van Vliergerghe H, Langlois M, Delanghe J, et al.: Haptoglobin phenotype 2-2 over-representation in Cys282Tyr hemochromatotic patients. J Hepatol 2001, 35:707-711.
25. Lee P, Gelbart T, West C, et al.: Seeking candidate mutations that affect iron homeostasis. Blood Cells Mol Dis 2002, 29:471-487.
26. Carter K, Bowen DJ, McCune CA, et al.: Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical expression in HFE C282Y hemochromatosis: phenotype and genotype analysis. Br J Haematol 2003,122:326-32.
27. Nicholas G, Bennoun M, Porteu A, et al.: Severe iron deficiency anaemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A 2002, 99:4596-4601.
28. Nicholas G, Viatte L, Lou DQ, et al.: Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003, 34:97-101.
29. Nicholas G, Bennoun M, Devaux I, et al.: Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A 2001, 98:8780-8785.
30. Bridle KR, Frazer DM, Wilkins SJ, et al.: Disrupted hepcidin regulation in HFE-associated hemochromatosis and the liver as a regulator of body iron homeostasis. Lancet 2003, 361:669-673.
31. Gehrke SG, Kulaksiz H, Hermann T, et al.: Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood 2003,102:371-376.
32. Fargion S, Valenti L, Dongiovanni P, et al.: Tumour necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis. Blood 2001, 97:3707-3712.
33. Vautier G, Murray M, Olynyk JK: Hereditary hemochromatosis: detection and management. Med J Aust 2001, 175:418-421.
34. McLaren CE, McLachlan GJ, Halliday JW, et al.: Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis. Gastroenterology 1998, 114:543-549.
35. Olynyk JK, Hagan SE, Cullen DJ, et al.: A 17 year study of the evolution of untreated hereditary hemochromatosis in the Busselton Population. Mayo Clin Proc, in press.
36. Piperno A, Sampietro M, Pietrangelo A, et al.: Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998, 114:996-1002.
37. Brunt EM, Olynyk JK, Britton RS, et al.: Histological evaluation of iron in liver biopsies: relationship to HFE mutations. Am J Gastroenterol 2000, 95:1788-1793.
38. Guyader D, Jacquelinet C, Moirand R, et al.: Non-invasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998, 115:929-936.
39. Bacon BR, Olynyk JK, Brunt EM, et al.: HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999, 130:953-962.
40. Olynyk JK, Reddy R, Di Bisceglie AM, et al.: Hepatic iron concentration as a predictor of response to alpha interferon therapy in chronic hepatitis C. Gastroenterology 1995, 108:1104-1109.
41. Bataller R, North KE, Brenner DA.: Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal. Hepatology 2003, 37:493-503.
42. Chitturi S, Weltman M, Farrell GC, et al.: HFE mutations, hepatic iron, and fibrosis: ethnic-specific association of NASH with C282Y but not with fibrotic severity. Hepatology 2002, 36:142-149.
43. George DK, Goldwurm S, Macdonald GA, et al.: Increased hepatic iron concentration in non-alcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology 1998, 114:311-318.
44. Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, et al.: Prevalence of hereditary hemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet 2001, 358:1405-1409.
45. Phelps G, Chapman I, Hall P, et al.: Prevalence of genetic hemochromatosis among diabetic patients. Lancet 1989, 2:233-234.
46. Olynyk J, Hall P, Ahern M, et al.: The prevalence of genetic hemochromatosis in patients with peripheral arthritis. Aust NZ J Med 1994, 24:22-25.
47. Willis G, Scott DG, Jennings BA, et al.: HFE mutations in an inflammatory arthritis population. Rheumatology 2002, 41:176-179.
48. Timms AE, Sathananthan R, Bradbury L, et al.: Genetic testing for hemochromatosis in patients with chondrocalcinosis. Ann Rheum Dis 2003, 61:745-747.
49. Krawczak M, Cooper DN, Schmidtke J: Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum Genet 2001, 69:361-370.
50. Adams PC, Speechley M, Kertesz AE: Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991, 101:368-372.
51. Hickman PE, Hourigan LF, Powell LW, et al.: Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous hemochromatosis. Gut 2000, 46:405-409.