Genetic hemochromatosis: Pathogenesis, diagnosis, and therapy

Digestive Diseases

Volumn 14, Issue 5, 1996, Pages 304-315

  Barisani, Donatella ^a,b   Green, Richard M ^a   Gollan, John L ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Genetic disease; Hemochromatosis; HLA locus; Iron overload; Liver

Indexed keywords

CHELATION THERAPY; CHROMOSOME 6; GENETICS; HEMOCHROMATOSIS; HUMAN; PHLEBOTOMY; RECESSIVE GENE; REVIEW;

CHELATION THERAPY; CHROMOSOMES, HUMAN, PAIR 6; GENES, RECESSIVE; HEMOCHROMATOSIS; HUMANS; PHLEBOTOMY;

EID: 0030228916     PISSN: 02572753     EISSN: 14219875     Source Type: Journal    
DOI: 10.1159/000171561     Document Type: Article

References (72)

1. Bassett ML, Halliday JW, Powell LW: HLA typing in idiopathic hemochromatosis: Distinction between homozygotes and heterozygotes with biochemical expression. Hepatology 1981;1:120-126.
2. Dadonc MM, Kushner J P, Edwards CQ, Bishop DT, Skolnick MH: Hereditary hemochromatosis: Analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol 1982:78:196-207.
3. Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bour-el M: A study of 609 HLA haplo-types marking the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a herterozygous population and (2) hypothesis concerning the underlying cause of he-mochromatosis-HLA association. Am J Hum Genet 1987;41:89-105.
4. Edwards CQ, Griffin LM, Goldgar DE, Drummond C, Skolnick MH, Kushner JP: Prevalence of hemochromatosis among 11.065 presumably healthy blood donors. N Engl J Med 1988;318:1355-1362.
5. Leggett BA, Halliday JW, Brown NN, Brvanl S, Powell LW: Prevalence of hemochromatosis amongst asymptomatic Australians. Br J Haematol 1990:74:525-530.
6. Niederau C, Fisher R, Sonncnberg A, Stremmel W, Trampisch II J, Strohmeyer G: Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985:313: 1256-1262.
7. Adams PC, Speechlcy M, Kertcsz AE: Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991;101:368-372.
8. Fargion S, Mandclli C, Pipcmo A, Ccsana B, Fracanzani AL, Fraquelli M, Bianchi PA, Fiorclli G, Conte D: Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. Hepatology 1992; 15:655-659.
9. Simon M, Bourel M, Fauchct R, Genetet B: Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut 1976; 17:332-334.
10. Simon M, Bourel M, Genetet B, Fouchet R: idiopathic hemochromatosis: Demonstration of recessive transmission and early detection by family HI.A typing. N Engl J Med 1977;297:1017-1021.
11. Edwards CQ, Carroll M, Bray P, Cartwright GE: Hereditary hemochromatosis. N Engl J Med 1977: 297:7-13.
12. Doran T, Bashir HV, Trejaut J, Bassett ML, Halliday JW, Powell LW: Idiopathic hemochromatosis in the Australian population: HLA linkage and recessivity. Hum Immunol 1981:2:191-200.
13. Summers KM, Tam KS, Halliday JW, Powell LW: HLA determinants in an Australian population of hemochromatosis patients and their families. Am J Hum Genet 1989;45: 41-48.
14. Edwards CQ, Griffin LM, Dadone MM, Skolnick MH, Kushner JP: Mapping the locus for hereditary hemochromatosis: Localization between HL.A-B and HLA-A. Am J Hum Genet 1986:38:805-811.
15. David V, Paul P, Simon M, Le Gall JY, Fauchet R, Giquel I, Dugast I, Le Mignon L, Yaouang J, Cohen D: DNA polymorphism related to the idiopathic hemochromatosis gene: Evidence in a recombinant family. Hum Genet 1986;74:113-120.
16. Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW: Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet 1993:53:347-352.
17. Powell L, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW: Expression of hemochromatosis in homozygous subjects: Implications for early diagnosis and prevention. Gastroenterology 1990:98:1625-1632.
18. Bothwell TH, Charlton RW, Cook JD: Iron Metabolism in Man. Oxford, Blackwell, 1979.
19. Celada A, Rudolf H, Herreros V, Donath A: Inorganic iron absorption in subjects with iron deficiency anemia, achylia gastrica and alcoholic cirrhosis using a whole-body counter. Acta Haematol 1978:60: 182-192.
20. Cox TM, Peters TJ: Cellular mechanism in the regulation of iron absorption by the human intestine: Studies in patients with iron deficiency before and after the treatment. Br J Haematol 1980:44:175-186.
21. Whittaker P, Skinkne BS, Covell AM, Flowers C, Cooke A, Lynch SR, Cook JD: Duodenal iron proteins in idiopathic hemochromatosis. J Clin Invest 1989;83:261-267.
22. McLaren GD, Nathanson MH, Jacobs A, Trevett D, Thomson W: Regulation of intestinal iron absorption and mucosal iron kinetics in hereditary hemochromatosis. J Lab Clin Med 1991;117:390-401.
23. Cox TM, Peters TJ: Uptake of iron by duodenal biopsy specimens from patients with iron-deficient anemia and primary hemochromatosis. Lancet 1978;i: 123-124.
24. Cox TM, Peters TJ: In vitro studies of duodenal iron uptake in patients with primary and secondary iron storage disease. Q J Med 1980:49: 249-257.
25. Duane P, Raja B, Simpson RJ, Peters TJ: In vitro uptake of iron from iron-ascorbatc by human duodenal biopsies from control subjects and patients with idiopathic hemochromatosis. Eur J Gastroenterol Hepatol 1992;4:661-666.
26. Lombard M, Bomford AB, Poison JR, Bellingham AJ, Williams R: Differential expression of transferrin receptor in duodenal mucosa in iron overload: Evidence for a site-specific defect in genetic heomochro-matosis. Gastroenterology 1990:98: 976-984.
27. Fracanzani AL, Fargion S, Romero R, Pipemo A, Arosio P, Ruggeri G, Ronchi G, Fiorelli G: lmmunohisto-chemical evidence for a lack of ferritin in duodenal absorptive epithelial cells in idiopathic hemochromatosis. Gastroenterology I989;96: 1071-1078.
28. Pietrangelo A, Rocchi E, Casalgrandi G, Rigo G, Ferrari A, Perini M, Ventura E, Cairo G: Regulation of transferrin, transferrin receptor, and ferritin genes in human duodenum. Gastroenterology 1992; 102:802-809.
29. Mandclli C, Cesarini L, Pipemo A, Fargion S, Fracanzani AL, Barisani D, Conte D: Saturability of hepatic iron deposits in genetic hemochromatosis. Hepatology 1992; 16:956- 959.
30. 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;6:24-29.
31. Summers KM, Halliday JW, Powell LW: Identification of homozygous hemochromatosis subjects by measurements of hepatic iron index. Hepatology 1990:12:20-25.
32. Sciot R, Paterson AC, Van den Oord JJ, Desmet VJ: Lack of hepatic transferrin receptor expression in hemochromatosis. Hepatology 1987;7:831-837.
33. Lombard M, Bomford A, Hynes M, Naoumov NV, Roberts S, Crowe J, Williams R: Regulation of the hepatic transferrin receptor in hereditary hemochromatosis. Hepatology 1989;9:1-5.
34. Pietrangelo A, Rocchi E, Ferrari A, Ventura E, Cairo G: Regulation of hepatic transferrin, transferrin receptor and ferritin genes in human siderosis. Hepatology 1991:14: 1083-1089.
35. Bacon BR, Britton RS: The pathology of hepatic iron overload: A free radical-mediated process'.’ Ilcpato-logy 1990;1 1:127-137.
36. Peters TJ, Seymour CA: Acid hydrolase activities and lysosomal integrity in liver biopsies from patients with iron overload. Clin Sci 1976: 50:75-78.
37. Seymour CA, Peters TJ: Organelle pathology in primary and secondary hacmochromatosis with special reference to lysosomal changes. Br J Haematol 1978:40:239-253.
38. Scldcu C, Owen M, Hopkins JMP, Peters TJ: Studies on the concentration and intracellular localization of iron proteins in liver biopsy specimens from patients with iron overload with special reference to their role in lysosomal disruption. Br J Haematol 1980;44:593-603.
39. Mak IT, Weglicki WB: Characterization of iron-mediated peroxida-tivc injury in isolated hepatie lyso-somes. J Clin Invest 1985:75:58- 63.
40. Bacon BR, O'Neill R, Park CH: Iron-induced peroxidative injury to isolated rat hepatic mitochondria. J Free Radic Biol 1986:2:339-347.
41. Britton RS, O’Neill R, Bacon BR: Chronic dietary iron overload in rats results in impaired calcium sequestration by hepatic mitochondria and microsomes. Gastroenterology 1991;101:806-811.
42. Weintraub LR, Goral A, Grasso J, Granzblau C, Sullivan A, Sullivan S: Pathogenesis of hepatic fibrosis in experimental iron overload. Br J Haematol 1985:59:321-331.
43. Pictrangelo A, Gualdi R, Casaigran-di G, Geerts A, De Bleser P, Monto-si G, Ventura E: Enhanced hepatic collagen type I rnRNA expression into fat-storing cells in a rodent model of hemochromatosis. Hcpa-tology 1994;19:714-721.
44. Ramm GA, Britton RS, O'Neill R, Bacon BR: Identification and characterization of a receptor for tissue ferritin on activated rat lipocytes. J Clin Invest 1994;94:9-15.
45. Wicland P, Lautcrburg BH: Oxidative damage to DNA and proteins in models of hemochromatosis and alcoholism (abstract). Hepatology 1993:18:278.
46. 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, pp271-311.
47. Bassett ML, Halliday JW, Ferris RA, Powell LW: Diagnosis of hemochromatosis in young subjects: Predictive accuracy of biochemical screening tests. Gastroenterology 1984;87:628-633.
48. Adams PC: Prevalence of abnormal iron studies in heterozygotes for hereditary hemochromatosis: An analysis of 255 heterozygotes. Am J Hc-matol 1994:45:146-149.
49. Bell H, Skinningsrud A, Rakncrud N, Try K: Serum ferritin and transferrin saturation in patients with chronic alcoholic and non-alcoholic liver diseases. J Intern Med 1994: 236:315-322.
50. Halliday JW, Cowlishaw JL, Russo AM, Powell LW: Serum ferritin in diagnosis of hemochromatosis: A study of 43 families. Lancet 1977;ii: 621-624.
51. Wands JR, Rowe JA, Mezey SE, Walcrbury LA, Wright JR, Halliday JW, Isselbacher KJ, Powell LW: Normal serum ferritin concentrations in prccirrhotic hemochromatosis. N Engl J Med 1976:294:302-305.
52. Worwood M: Editorial review: Serum ferritin. Clin Sei 1986:70:215-217.
53. Schwarz-Eywill M, Heilig B, Bauer H, Brcitbart A, Pczzutto A: Evaluation of scrum ferritin as a marker for adult Still's disease activity. Ann Rheuin Dis 1992:51:683-685.
54. Essen A, Ozcn H, Ayan A, Ergen A, Tasar C, Renzi F: Serum ferritin: A tumor marker for renal cell carcinoma. J Urol 1991;145:1113-1137.
55. Lukina EA, Levina AA, Mokceva RA, Tokarev YN: The diagnostic significance of serum ferritin indices in patients with malignant and reactive histiocytosis. Br J Haematol 1993;83:326-329.
56. Leggeit BA, Brown NN, Bryant SJ, Duplcck L, Powell LW, Halliday JW: Factors affecting the concentrations of ferritin in scrum in a healthy Australian population. Clin Chem 1990:36:1350-1355.
57. Olynyk JK, O'Neill R, Britto RS, Bacon BR: Determination of hepatic iron concentration in fresh and paralTin-embedded tissue: Diagnostic implications. Gastroenterology 1994;106:674-677.
58. Cheznar JL, Nelson RC, Malko JA, Bernardino ME: Hepatic iron overload: Diagnosis and quantification by noa-invasive imaging. Gastroin-tcst Radiol 1990;15:27-31.
59. Guyader D, Gandon Y, Deugnier Y, et al: Magnetic resonance imaging and assessment of liver iron content in genetic hemochromatosis. J Hepatol 1992;75:304-308.
60. Konloghiorges GJ: Oral chelation is here. Br Med J 1991:303:1279-1280.
61. Olivieri N, Brittenham GM, Matsui D, Bcrkovitch M, Blendis LM, Cameron RG, McClelland RA, Liu PP, Templeton DM, Korcn G: Iron chelation therapy with oral deferiprone in patients with thalassemia major. N Engl J Med 1995:332:918-922.
62. Fagiuoli S, Hassanein T, Gurakar A, Caraceni P, Wright HI, Tabasco-Mi-guillan J, Gavalcr JS, Deal S, Van Thiel DH: Liver transplantation for hereditary hemochromatosis (abstract). Gastroenterology 1993:104: 989.
63. Farrcl FJ, Nguyen M, Woodley S, Imperial JC, Garcia-Kennedy R, Man K, Esquivel CO, Kceffe EB: Outcome of liver transplantation in patients with hemochromatosis. Hc-patology 1994;20:404-410.
64. Kowdley KV, Hassanein T, Kaur S, Farrell FJ, Van Thiel DH, Keeffe EB, Sorrell MF, Bacon B, Weber FL, Tavill A: Primary liver cancer and survival in patients undergoing liver transplantation for hemochromatosis. Liver Transplant Surg 1995:1: 237-241.
65. Grace ND: Liver transplantation for hemochromatosis: An ironic dilemma. Liver Transplant Surg 1995;I: 234-236.
66. Edwards CO, Kushner JP: Screening for hemochromatosis. N Engl J Med 1993:328:1616-1620.
67. Phatak PD, Guzman G, Woll JE, Robeson A, Phelps E: Cosl-effec-tivcness of screening for hereditary hemochromatosis. Arch Intern Med 1994:154:769-776.
68. Buf Tone GJ, Beck JR: Cosl-effcc-tiveness analysis for evaluation of screening programs: Hereditary hemochromatosis. Clin Chem 1994; 40:1631-1636.
69. Balan V, Baldus W, Fairbanks V, Michels V, Burritt M, Klee G: Screening for hemochromatosis: A cosl-effectiveness study based on 12,258 patients. Gastroenterology 1994;107:453-459.
70. 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.
71. Adams PC, Gregor JC, Kertcsz AH, Valbcrg LS: Screening blood donors for hereditary hemochromatosis: Decision analysis model based on a 30-year database. Gastroenterology 1995;109:177-188.
72. Kushner JP: Screening for hemochromatosis. Gastroenterology 1995;109:315-316.