Review article: The modern diagnosis and management of haemochromatosis

Alimentary Pharmacology and Therapeutics

Volumn 23, Issue 12, 2006, Pages 1681-1691

  Adams, P C ^a,b  

^a LONDON HEALTH SCIENCES CENTRE   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DEFERASIROX; DEFEROXAMINE; FERRITIN; IRON; TRANSFERRIN;

CLINICAL FEATURE; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST; DIET RESTRICTION; DISEASE ASSOCIATION; FERRITIN BLOOD LEVEL; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; GENETIC PROCEDURES; HEMOCHROMATOSIS; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; IRON BINDING CAPACITY; IRON CHELATION; IRON DEPLETION; IRON METABOLISM; IRON OVERLOAD; LIVER BIOPSY; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHLEBOTOMY; PRIORITY JOURNAL; PROGNOSIS; REVIEW; RISK ASSESSMENT; RISK FACTOR; SYMPTOMATOLOGY; UNSPECIFIED SIDE EFFECT;

BIOPSY; DIAGNOSTIC IMAGING; FERRITINS; GENETIC SCREENING; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON; MEMBRANE PROTEINS; PEDIGREE; TRANSFERRIN;

EID: 33744942151     PISSN: 02692813     EISSN: 13652036     Source Type: Journal    
DOI: 10.1111/j.1365-2036.2006.02947.x     Document Type: Review

References (54)

1. Adams PC Reboussin DM Barton JC, et al. Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population. N Eng J Med 2005 352 : 1769 78.
2. Feder JN Gnirke A Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996 13 : 399 408.
3. Asberg A Hveem K Kruger O Bjerve K. Persons with screening-detected haemochromatosis: as healthy as the general population? Scand J Gastroenterol 2002 37 : 719 24.
4. Beutler E Felitti V Koziol J Ho N Gelbart T. Penetrance of the 845G to A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002 359 : 211 8.
5. Adams PC Deugnier Y Moirand R Brissot P. The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis. Hepatology 1997 25 : 162 6.
6. O'Neil J Powell LW. Clinical aspects of hemochromatosis. Sem Liv Disease 2005 25 : 381 91.
7. Crawford D Fletcher L Hubscher S, et al. Patient and graft survival after liver transplantation for hereditary hemochromatosis: implications for pathogenesis. Hepatology 2004 39 : 1655 62.
8. Kowdley K Brandhagen D Gish R, et al. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology 2005 129 : 494 503.
9. Adams PC Alanen K Preshaw R, et al. Transplantation of haemochromatosis liver and intestine into a normal recipient. Gut 1999 45 : 783.
10. Adams PC. Hepatocellular carcinoma in hereditary hemochromatosis. Can J Gastroenterol 1993 7 : 37 41.
11. Pietrangelo A. Non-HFE hemochromatosis. Sem Liv Disease 2005 25 : 450 60.
12. Adams PC. Hemochromatosis case definition - out of focus? Nat Clin Gastroenterol Hepatol 2006 3 : 178 9.
13. Tavill AS. Diagnosis and management of hemochromatosis. Hepatology 2001 33 : 1321 8.
14. Tavill A Adams PC. A diagnostic approach to hemochromatosis. Can J Gastro 2006 in press
15. 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 5211 voluntary blood donors. Hepatology 2000 31 : 1160 4.
16. Hickman P Hourigan L Powell LW, et al. Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous hemochromatosis. Gut 2000 46 : 405 9.
17. Adams P Zaccaro D Moses G, et al. 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 HEIRS study. Clin Chem 2005 51 : 1048 51.
18. Wong K Adams PC. The diversity of liver diseases associated with an elevated serum ferritin. Can J Gastro 2006 in press.
19. Moirand R Jouanolle A-M Brissot P Le Gall J-Y David V Deugnier Y. Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology 1999 116 : 372 7.
20. Rossi E Olynyk J Cullen D, et al. Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women. Clin Chem 2000 46 : 162 6.
21. Roetto A Bosio S Gramaglia E Barilaro M Zecchina G Camaschella C. Pathogenesis of hyperferritinemia cataract syndrome. Blood Cell Mol Dis 2002 29 : 532 5.
22. Guyader D Jacquelinet C Moirand R, et al. Non-invasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998 115 : 929 36.
23. Beaton M Guyader D Deugnier Y Moirand R Chakrabarti S Adams P. Non-invasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology 2002 36 : 673 8.
24. Adams PC Speechley M Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991 101 : 368 72.
25. Niederau C Fischer R Purschel A Stremmel W Haussinger D Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996 110 : 1107 19.
26. Gandon Y Olivie D Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet 2004 363 : 357 60.
27. Alustiza J Artetxe J Castiella A, et al. MR Quantification of hepatic iron concentration. Radiology 2004 230 : 479 84.
28. St Pierre T Clark P Chua-anusorn W, et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood 2005 105 : 855 61.
29. Nielsen P Engelhardt R Dullman J Fischer R. Non-invasive liver iron quantification by SQUID-biosusceptometry and serum ferritin iron as new diagnostic parameters in hereditary hemochromatosis. Blood Cells Mol Dis 2002 29 : 451 8.
30. Aguilar-Martinez P Bismuth M Picot M, et al. Variable phenotypic presentation of iron overload in H63D homozygotes: are gene modifiers the cause? Gut 2001 6 : 836 42.
31. Asberg 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 : 1108 15.
32. Barash C. Genetic discrimination and screening for hemochromatosis: then and now. Genetic Testing 2000 4 : 213 8.
33. Hall M McEwen J Barton J, et al. Concerns in a primary care population about genetic discrimination by insurers. Genet Med 2005 7 : 311 6.
34. Delatycki M Allen K Nisselle A, et al. Use of community genetic screening to prevent HFE-associated hereditary hemochromatosis. Lancet 2005 366 : 316.
35. Shaheen N Lawrence L Bacon B, et al. Insurance, employment, and psychosocial consequences of a diagnosis of hereditary hemochromatosis in subjects without end-organ damage. Am J Gastroenterol 2003 98 : 1175 80.
36. Power T Adams PC. Psychosocial impact of genetic screening for hemochromatosis in population screening and referred patients. Genetic Testing 2001 5 : 107 10.
37. Pietrangelo A. Non-HFE hemochromatosis. Hepatology 2004 39 : 21 29.
38. Pietrangelo A. Hereditary hemochromatosis: a new look at an old disease. N Eng J Med 2004 350 : 2383 97.
39. Kotze M DeVillers J Bouwens C, et al. Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population. Clin Genet 2004 65 : 317 21.
40. Adams PC Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology 1998 114 : 319 23.
41. Yamashita C Adams PC. Natural history of the C282Y homozygote of the hemochromatosis gene (HFE) with a normal serum ferritin level. Clin Gastroenterol Hepatol 2003 1 : 388 91.
42. Beutler E. Natural history of hemochromatosis. Mayo Clin Proc 2004 79 : 305 6.
43. Olynyk J Hagan S Cullen D Beilby J Whittall D. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc 2004 79 : 309 13.
44. Andersen R Tybjaerg-Hansen A Appleyard M Birgens H Nordestgaard B. Hemochromatosis mutations in the general population: iron overload progression rate. Blood 2004 103 : 2914 9.
45. Gleeson F Ryan E Barrett S Crowe J. Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening. Eur J Gastroenterol Hepatol 2004 16 : 859 63.
46. Adams P Acton R Walker A. A primer for predicting risk of disease in HFE-linked hemochromatosis. Genetic Testing 2001 5 : 311 6.
47. Adams PC Kertesz AE Valberg LS. Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis. Implications for venesection therapy. J Clin Gastroenterol 1993 16 : 207 10.
48. Adams PC. Factors affecting rate of iron mobilization during venesection therapy for hereditary hemochromatosis. Am J Hematology 1998 58 : 16 19.
49. Leitman S Browning J Yau Y, et al. Hemochromatosis subjects as allogeneic blood donors: a prospective study. Transfusion 2003 43 : 1538 44.
50. Wojcik J Speechley M Kertesz A Chakrabarti S Adams P. Natural history of C282Y homozygotes for haemochromatosis. Can J Gastro 2002 16 : 297 302.
51. Olsson K Vaisanen M Konar J Bruce A. The effect of withdrawal of food iron fortification in Sweden as studied with phlebotomy in subjects with genetic hemochromatosis. Eur J Clin Nutr 1998 51 : 782 6.
52. Adams PC Passmore L Chakrabarti S, et al. Liver diseases in the hemochromatosis and iron overload screening study. Clin Gastroenterol Hepatol 2006 epub: http://www.pulsus.com/WCOG/abs/LB.081.htm.
53. Olynyk J Cullen D Aquilia S Rossi E Summerville L Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Eng J Med 1999 341 : 718 24.
54. Powell L Dixon J Ramm G, et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Int Med 2006 166 : 294 301.