Review article: The screening, diagnosis and optimal management of haemochromatosis

Alimentary Pharmacology and Therapeutics

Volumn 11, Issue 4, 1997, Pages 631-639

  George, D K ^a   Powell, L W ^a,b  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DEFEROXAMINE; TRANSFERRIN;

CAUCASIAN; DEATH; FERRITIN BLOOD LEVEL; HEMOCHROMATOSIS; HEREDITY; HUMAN; IRON OVERLOAD; IRON STORAGE; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FUNCTION TEST; MOLECULAR CLONING; MORBIDITY; MUTATION; PHLEBOTOMY; PRIORITY JOURNAL; REVIEW; SCREENING TEST;

EID: 0030921555     PISSN: 02692813     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2036.1997.00197.x     Document Type: Review

References (60)

1. Powell LW, Jazwinska E, Halliday JW. Primary iron overload. In: Brock JH, Halliday JW, Pippard MJ, Powell LW, eds. Iron Metabolism in Health and Disease. London: Saunders, 1994: 227-70.
2. von Recklinghausen FD. Uber Haemochromatose. Taggeblatt der (62) Versammling Deutsch Naturforscher und Artze in Heidelberg 1889: 324-5.
3. Sheldon JH. Haemochromatosis. London: Oxford University Press, 1955.
4. MacDonald RA. Primary haemochromatosis: inherited or acquired? Prog Haematol 1965; 5: 324-57.
5. Simon M, Bourel M, Fauchet R, Gerietet B. Association of HLA A3 and HLA B14 antigens with idiopathic haemochromatosis.Cut 1976; 2: 332-4.
6. 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.
7. Jazwinska EC, Cullen LM, Busfield F, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14: 249-51.
8. Finch SC, Finch CA. Idiopathic hemochromatosis, an iron storage disease. Medicine (Baltimore) 1955; 34: 381-430.
9. MacDonald RA. Hemochromalosis and cirrhosis in different geographic areas. Am J Med Sci 1965; 249: 36-46.
10. MacSween RNM, Scott AR. Hepatic cirrhosis: a clinicopathological review of 520 cases. J Clin Path 1973; 26: 936-42.
11. Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of haemochromatosis amongst asymptomatic Australians. Br J Haematol 1990; 74: 525-30.
12. 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: 1355-62.
13. Wiggers P, Dalho JJ, Kiaer H, et al. Screening for haemochromatosis: prevalence amongst Danish blood donors. J Intern Med 1991; 230: 265-70.
14. Tanner AR, Desai S, Lu W, Wright R. Screening for haemochromatosis in the UK: preliminary results. Gut 1985; 26: A1139-40 (Abstract).
15. Powell LW, Summers KM, Board PG, et al. Expression of hemochromatosis in homozygous subjects. Implications for early diagnosis and prevention. Gastroenterology 1990; 98: 1625-32.
16. Kushner JP. Screening for hemochromatosis. Gastroenterology 1995; 109: 315-6.
17. 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: 177-88.
18. Bulaj ZJ, Griffen BA, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996; 335: 1799-1805.
19. 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.
20. 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.
21. Moirand M, Mortaji AM, Loreal O, Paillard F, Brissot P, Deugnier Y. A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997; 349: 95-7.
22. 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.
23. Wilson JM, Junger G. The principles and practice of screening for disease. Pub Hlth Pap WHO 1968; 34: 26-39.
24. Edwards CQ, Kushner JP. Screening for hemochromatosis. N Engl J Med 1993; 328: 1616-20.
25. George DK, Evans RM, Crofton RW, Gunn IR. Testing for haemochromatosis in the diabetic clinic. Ann Clin Biochem 1995; 32: 521-6.
26. Olynyk J, Kwiatek R, Hall P, MacKinnon M, Ahern M. Screening for genetic haemochromatosis in a rheumatology clinic. Aust NZ J Med 1994; 24: 22-5.
27. McLaren CE, McLachlan CJ, Halliday JW, et al. The distribution of transferrin saturation in an asymptomatic Caucasian Australian population: Relevance to the early diagnosis of hemochromatosis. Gastroenterology, in press.
28. Baer DM, Simons JL, Staples RL, Rumore GL, Morton CJ. Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older. Am J Med 1995; 98: 464-8.
29. Smith BN, Kantrowitz W, Grace ND, et al. Prevalence of genetic hemochromatosis among employees of a large Boston corporation. Hepatology 1994; 20: A1219 (Abstract).
30. Leggett BA, Brown NN, Bryant SJ, Duplock L, Powell LW, Halliday JW. Factors affecting the concentrations of ferritin in serum in a healthy Australian population. Clin Chem 1990; 36: 1350-5.
31. Bassett ML, Halliday JW, Bryant S, Dent O, Powell LW. Screening for hemochromatosis. Ann NY Acad Sci 1988; 526: 274-89.
32. Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH. Hereditary hemochromatosis: analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Path 1982; 78: 196-207.
33. Balan L, 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: 453-9.
34. Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med 1994; 154: 769-76
35. Niederau C, Fischer R, Sonnerberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985; 313: 1256-62.
36. Phelps G, Chapman I, Hall P, Braund W, MacKinnon M. Prevalence of genetic haemochromatosis among diabetic patients. Lancet 1989; 2: 233-4.
37. O'Brien T, Barrett B, Murray DM, Dinneen S, O'Sullivan DJ. Usefulness of biochemical screening of diabetic patients for haemochromatosis. Diabetes Care 1990; 13: 532-3.
38. Crink E, Tamas G. Screening for idiopathic haemochromatosis among diabetic patients. Diabetes Care 1991; 14: 929-30
39. Singh BM, Grinnewald RA, Press M, Muller BR, Wise PH. Prevalence of haemochromatosis amongst patients with diabetes mellitus. Diabetic Med 1992; 9: 730-1.
40. Stocks AE, Powell LW. Carbohydrate intolerance in idiopathic haemochromatosis and cirrhosis of the liver. Q J Med 1973; 42: 733-49.
41. Risedale L, Evans A, Jerrett W, Mandalia S, Olser K, Vora H. Patients with fatigue in general practice: a prospective study. Br Med J 1993; 307: 103-6.
42. Lane TJ, Matthews DA, Manu P. The low yield of physical examinations and laboratory investigations of patients with chronic fatigue. Am J Med Sci 1990; 299: 313-8.
43. Simon M, Yaouanq J, Fauchet R, LeGall J-Y, Brissot P, Bourel M. Genetics of hemochromatosis: HLA association and mode of inheritance. Ann NY Acad Sci 1988; 526: 11-22.
44. Lloyd HM, Powell LW, Thomas MJ. Idiopathic haemochromatosis in menstruating women. Lancet 1964; 2: 555-6.
45. Bassett 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: 24-9.
46. Summers KM, Halliday JW, Powell LW. Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index. Hepatology 1990; 12: 20-5.
47. Loreal O, Deugnier Y, Moirand R, et al. Liver fibrosis in genetic haemochromatosis. J Hepatol 1992; 16: 122-7.
48. Piperno A, Fargion S, D'Alba R, et al. Liver damage in Italian patients with hereditary hemochromatosis is highly influenced by hepatitis B and C virus infection. J Hepatol 1992; 16: 364-8.
49. Sallie R, Reed WD, Shilkin KB. Confirmation of the efficacy of the hepatic iron index in differentiating genetic haemochromatosis from alcoholic liver disease complicated by alcoholic haemosiderosis. Gut 1991; 32: 207-10.
50. Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Path Bact 1962; 84: 53-64.
51. Powell LW. Iron storage in relatives of patients with haemochromatosis and in relatives of patients with alcoholic cirrhosis and hemosiderosis. A comparative study of 27 families. Q J Med 1965; 34: 427-42.
52. Deugnier YM, Olivier L, Turlin B, et al. Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology 1992; 102: 2050-9.
53. Guyader D, Gandon Y, Deugnier Y, et al. Evaluation of computed tomography in the assessment of liver iron overload. A study of 46 cases of idiopathic hemochromatosis. Gastroenterology 1989; 97: 737-43.
54. Stark DD. Hepatic iron overload. Paramagnetic pathology. Radiology 1991; 179: 333-5.
55. Ramm GA, Crawford DHG, Powell LW, Walker NI, Fletcher LM, Halliday JW. Hepatic stellate cell activation in genetic haemochromatosis: lobular distribution, effect of increasing hepatic iron and response to phlebotomy. J Hepatol 1997; 26: 584-92.
56. Powell LW. Does transplantation of the liver cure genetic hemochromatosis? J Hepatol 1992; 16: 259-61.
57. Farrell FJ, Nguyen M, Woodley S, et al. Outcome of liver transplantation in patients with hemochromatosis. Hepatology 1994; 20: 404-10.
58. Kowdley KV, Hassanien T, Kaur S, et al. Primary liver cancer and survival in patients undergoing liver transplantation for hemochromatosis. Liver Transplant Surg 1995; 1: 237-41.
59. Grace ND. Liver transplantation for hemochromatosis: an ironic dilemma. Liver Transplant Surg 1995; 1: 234-5.
60. Powell LW. Hemochromatosis: the impact of early diagnosis and therapy. Gastroenterology 1996; 110: 1304-7.