The haemochromatosis gene: A global perspective and implications for the Asia-Pacific region

Journal of Gastroenterology and Hepatology (Australia)

Volumn 14, Issue 9, 1999, Pages 838-843

  Mortimore, Marianne ^a   Merryweather Clarke, Alison T ^b   Robson, Kathryn J H ^b   Powell, Lawrie W ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Genetics; Haemochromatosis; HFE; Iron overload; Metabolism

Indexed keywords

FERRITIN; TRANSFERRIN;

ASIA; DISEASE ASSOCIATION; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HEMOCHROMATOSIS; HEPATITIS C; IRON METABOLISM; IRON OVERLOAD; IRON TRANSPORT; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; REVIEW;

EID: 0032886994     PISSN: 08159319     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1746.1999.01980.x     Document Type: Review

References (59)

1. 1 von Recklinghausen FD. Uber Haemochromatose. Tagebl Versamml Nature Arzte Heidelberg 1889; 62: 324.
2. 2 Powell LW, Jazwinska E, Halliday J. Changing concepts of haemochromatosis. Adv. Exp. Med. Biol. 1994; 356: 285-91.
3. 3 Sheldon JH. Haemochromatosis. London: Oxford University Press, 1935.
4. 4 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.
5. 5 Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J. Med. Genet. 1997; 34: 275-8.
6. 6 Cullen LM, Gao X, Easteal S, Jazwinska EC. The hemochromatosis 845 G to A and 187 C to G mutations: Prevalence in non-caucasian populations. Am. J. Hum. Genet. 1998; 62: 1403-7.
7. 7 Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 1976; 17: 332-4.
8. 8 Jazwinska EC, Pyper WR, Burt MJ et al. Haplotype analysis in Australian haemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with haemochromatosis. Am. J. Hum. Genet. 1995; 56: 428-33.
9. 9 Raha-Chowdhury R, Bowen DJ, Stone C et al. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum. Mol. Genet. 1995; 4: 1869-74.
10. 10 Bodmer JG, Parham P, Albert ED, Marsh SG. Putting a hold on 'HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System (Letter). Nat. Genet. 1997; 15: 234-5.
11. 11 Feder JN, Tsuchihashi Z, Irrinki A et al. The hemochromatosis founder mutation in HLA-H disrupts beta 2-microglobulin interaction and cell surface expression. J. Biol. Chem. 1997; 272: 14025-8.
12. 12 Waheed A, Parkkila S, Zhou XY et al. Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc. Natl Acad. Sci. USA 1997; 94: 12 384-9.
13. 13 Parkkila S, Waheed A, Britton RS et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc. Natl Acad. Sci. USA 1997; 94: 13 198-202.
14. 14 Feder JN, Penny DM, Irrinki A et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl Acad. Sci. USA 1998; 95: 1472-7.
15. 15 Lebron JA, Bennett MJ, Vaughn DE et al. Crystal structure of the hemochromatosis protein HFE, and characterization of its interaction with transferrin receptor. Cell 1998; 93: 111-23.
16. 16 Parkkila S, Waheed A, Britton RS et al. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals a unique pattern of expression in gastrointestinal tract. Proc. Natl Acad. Sci. USA 1997; 94: 2534-9.
17. 17 Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and hemochromatosis at the crossroads. Gastroenterology 1999; 116: 193-207.
18. 18 Santos M, Clevers H, de Sousa M, Marx JJ. Adaptive response of iron absorption to anemia, increased erythropoiesis, iron deficiency and iron loading in beta2-microglobulin knockout mice. Blood 1998; 91: 3059-65.
19. 19 de Sousa M, Reima R, Lacerdo R, Hugo P, Kaufmann SH, Porto G. Iron overload in beta 2-microglobulin-deficient mice. Immunol Lett. 1994; 39: 105-11.
20. 20 Santos M, Schilham MW, Rademakers LH, Marx JJ, de Sousa M, Clevers H. Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man. J. Exp. Med. 1996; 184: 1975-85.
21. 21 Bastin JM, Jones M, O'Callaghan CA, Schimanski L, Mason DY, Townsend ARM. Kupffer cell staining by an HFE-specific monoclonal antibody: Implications for hereditary haemochromatosis. Br. J. Haematol. 1998; 103: 931-41.
22. 22 Jazwinska EC, Powell LW. Hemochromatosis and "HLA-H": Definite! Hepatology 1997; 25: 495-6.
23. 23 Jouanolle AM, Fergelot P, Gandon G, Yaouanq J, Le Gall JY, David V. A candidate gene for hemochromatosis: Frequency of the C282Y and H63D mutations. Hum. Genet. 1997; 100: 544-7.
24. 24 Beutler E, Gelgart T, West C et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis. 1996; 22: 187-94.
25. 25 Datz C, Lalloz MR, Vogel W et al. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J. Hepatol. 1997; 27: 773-9.
26. 26 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: 828-32.
27. 27 The UK Haemochromatosis Consortium. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997; 41: 841-4.
28. 28 Camaschella C, Roette A, Cicilano M et al. Juvenile and adult hemochromatosis are distinct genetic disorders. Eur. J. Hum. Genet. 1997; 5: 371-5.
29. 29 Jezequel P, Bargain M, Lellouche F, Geffroy F, Dorval I. Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany. Hum. Genet. 1998; 102: 332-3.
30. 30 Rochette J, Pointon JJ, Fisher CA et al. Multicentric origin of HFE mutations. Am. J. Hum. Genet. 1999; 64: 1056-62.
31. 31 Roth M, Giraldo P, Hariti G et al. Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups in Algeria (Mzab), Ethiopia, and Senegal. Immunogenetics 1997; 46: 222-5.
32. 32 Chang JG, Liu TC, Lin SF. Rapid diagnosis of the HLA-H gene Cys282Tyr mutation in hemochromatosis by polymerase chain reaction: A very rare mutation in the Chinese population (Letter). Blood 1997; 89: 3492-3.
33. 33 Oliver M, Scully L, Guiraudon C, Adams PC. Non-HLA-linked hemochromatosis in a Chinese woman. Dig. Dis. Sci. 1995; 40: 1589-91.
34. 34 Eason RJ, Adams PC, Aston CE, Searle J. Familial iron overload with possible autosomal dominant inheritance. Aust. NZ J. Med. 1990; 20: 226-30.
35. 35 Aguilar Martinez P, Biron C, Blanc F et at. Compound heterozygotes for hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease? Blood Cells Mol. Dis. 1997; 23: 269-76.
36. 36 Crawford DH, Jazwinska EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 1998; 114: 1003-8.
37. 37 Mura C, Nousbaum JB, Verger P et al. Phenotype-genotype correlation in haemochromatosis subjects. Hum. Genet. 1997; 101: 271-6.
38. 38 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.
39. 39 Adams PC, Kertesz AE, Valberg LS. Clinical presentation of hemochromatosis: A changing scene. Am. J. Med. 1991; 90: 445-9.
40. 40 Prorok PC. Epidemiological approach for cancer screening: Problems in design and analysis of trials. Am. J. Pediatr. Hematol Oncol 1992; 14: 117-28.
41. 41 Edwards CQ, Kushner JP. Screening for hemochromatosis. N. Engl. J. Med. 1993; 328: 1616-20.
42. 42 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.
43. 43 Bassett ML, Leggett BA, Halliday JW, Webb S, Powell LW. Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers. J. Hepatol 1997; 27: 517-24.
44. 44 Adams PC, Chakrabarti S. Genotypic/phenotyic correlations in genetic hemochromatosis: Evolution of diagnostic criteria. Gastroenterology 1998; 114: 319-23.
45. 45 Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of haemochromatosis amongst asymptomatic Australians. Br. J. Haematol. 1990; 74: 525-30.
46. 46 Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among II 065 presumably healthy blood donors. N. Engl. J. Med. 1988; 318: 1355-62.
47. 47 Cullen LM, Summerville L, Glassick TV, Crawford DH, Powell LW, Jazwinska EC. Neonatal screening for the hemochromatosis defect. Blood 1997; 90: 4236-7.
48. 48 Merryweather-Clarke AT, Worwood M, Parkinson L et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Br. J. Haematol. 1998; 101: 369-73.
49. 49 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: 543-9.
50. 50 Crawford DHG, Leggett BA, Powell LW. Haemochromatosis. Baillieres Clin. Gastroenterol. 1998; 12: 209-25.
51. 51 Guyader D, Jacquelinet C, Moirand R et al. Non-invasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998; 115: 929-36.
52. 52 Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 321-3.
53. 53 Stuart KA, Busfield F, Jazwinska EC et al. The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. J. Hepatol. 1998; 28: 404-9.
54. 54 Elder GH, Worwood M. Mutations in the hemochromatosis gene, porphyria cutanea tarda and iron overload. Hepatology 1998; 27: 289-91.
55. 55 Sampietro M, Piperno A, Lupica L et al. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology 1998; 27: 181-4.
56. 56 Smith BC, Gorve J, Guzail MA et al. Heterozygosity for hereditary hemochromatosis is associated with fibrosis in chronic hepatitis C. Hepatology 1998; 27: 1695-9.
57. 57 George DK, Goldwurm S, MacDonald GA et al. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology 1998; 114: 311-18.
58. 58 Grove J, Daly AK, Burt AD et al. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 1998; 46: 202-6.
59. 59 Powell LW, Leggett BA, Crawford DHG. Hemochromatosis and other iron storage diseases. In: Schiff ER, Sorrell MF, Maddrey WC, eds. Schiff's Diseases of the Liver, 8th edn. Philadelphia: Lippincott-Raven, 1998; 1107-30.