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Current Clinical Practice

Hereditary Haemochromatosis: Recent Advances in Biology and Management

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Pages 185-194 | Received 14 Mar 1999, Published online: 13 Jul 2016

References

  • Sheldon, J. H. (1935). Haemochromatosis. London, Oxford University Press.
  • MacDonald, R. A. (1964). Hemochromatosis and hemosiderosis. Springfield, III., Charles C Thomas.
  • Simon, M., Bourel, M., Fauchet, R. and Genetet, B. (1976). Association of HLA A3 and HLA B14 antigens with idiopathic haemochromatosis. Gut, 17,332–334.
  • Simon, M., Le Mignon, L., Fauchet, R., et al., (1987). A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of gene near the HLA-A locus and characters to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am. J. Hum. Genet., 41, 89–105.
  • Simon, M., Alexandre, J. L., Fauchet, R., Genetet, B. and Bourel, M. (1980). The genetics of haemochromatosis. Prog. Med. Genet., 4, 135–168.
  • Feder, J. N., Gnirke, A., Thomas, W., et al., (1996). A novel MHC Class 1-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet., 13, 399–408.
  • Merryweather Clarke, A. T., Liu, Y. T., Shearman, J. D., Pointon, J. J. and Robson, K. J. (1997). A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation. Br. J. Haematol., 99, 460–463.
  • Bothwell, T. H., Charlton, R. W. and Motulsky, A. G. (1995). Hemochromatosis. In “The Metabolic and Molecular Bases of Inherited Disease“, edited by, C. R. Scriver, A. L. Beaudet, W. S. Sly and D. Valle, New York, McGraw-Hill Inc, pp. 2237–2269.
  • Moirand, R., Adams, P. C., Bicheler, V., Brissot, P. and Deugnier, Y. (1997). Clinical features of genetic hemochromatosis in women compared with men. Ann. Intern. Med., 127, 105–110.
  • Fillet, G., Beguin, Y. and Baldelli, L. (1989). Model of reticuloendothelial iron metabolism in humans: abnormal behavior in idiopathic hemochromatosis and in inflammation. Blood, 74(2), 844–851.
  • Moura, E., Noordermeer, M. A., Verhoeven, N., Verheul, A. F. and Marx, J. J. (1998). Iron release from human monocytes after erythrophagocytosis in vitro: an investigation in normal subjects and hereditary hemochromatosis patients. Blood, 92, 2511–2519.
  • Bassett, M. L., Halliday, J. W., Ferris, R. A. and Powell, L. W. (1984). Diagnosis of hemochromatosis in young subjects: predictive accuracy of serum iron, transferrin saturation and serum ferritin. Gastroenterology, 87, 628–634.
  • Valberg, L. S., Simon, J. B., Manley, P. N., Corbett, W. E. and Ludwig, J. (1975). Distribution of storage iron as body iron stores expand in patients with hemochromatosis. J. Lab. Clin. Med., 86, 479–489.
  • Beutler, E., Gelbart, T., West, C., et al., Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis., 22, 187–194.
  • Jazwinska, E. C., MacCullen, L., Busfield, F., et al., (1996). Haemochromatosis and HLA-H. Nat. Genet., 14, 251–252.
  • Jezequel, P., Bargain, M., Lellouche, F., Geffroy, F. and Dorval, I. (1998). Allele frequencies of hereditary hemochromatosis; gene mutations in a local population of west Brittany. Hum. Genet., 102, 332–333.
  • Willis, G., Jennings, B. A., Goodman, E., Fellows, I. and Wimperis, J. Z. (1997). A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in Eastern England. Blood Cells Mol. Dis., 23, 288–291.
  • Carella, M., D'Ambrosio, L., Totaro, A., et al., (1997). Mutational analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genetics, 60, 828–832.
  • Beutler, E. and Gelbart, T. (1997). HLA-H mutations in the Ashkenazi-Jewish population. Blood Cells Mol. Dis., 23, 95–98.
  • Roth, M., Giraldo, P., Hariti, G., et al., (1997). Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. Immunogenetics, 46, 222–225.
  • Cullen, L. M., Gao, X., Easteal, S. and Jazwinska, E. C. (1998). The hemochromatosis 845 G→A and 187 C→G mutations: prevalence in non-Caucasian populations. Amer. J. Hum. Genet., 62, 1403–1407.
  • Barton, J. C., Shih, W. W. H., Sawada-Hirai, R., et al., (1997). Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatability complex are responsible for hemochromatosis. Blood Cells Mol. Dis., 23, 135–145.
  • Rhodes, D. A., Raha Choudury, R., Cox, T. M. and Trowsdale, J. (1997). Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J. Med. Genet., 34, 761–764.
  • Crawford, D. H. G., Halliday, J. W., Summers, K. M., Burke, M. and Powell, L. W. (1993). Concordance of iron storage in siblings with genetic hemochromatosis: Evidence for a predominantly genetic effect on iron storage. Hepatology, 17, 833–837.
  • Merryweather Clarke, A. T., Worwood, M., Parkinson, L., et al., (1998). The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Brit. J. Haematol., 101, 369–373.
  • Willis, G., Wimperis, J. Z., Lonsdale, R., Sampson, M. J. and Jennings, B. A. (1998). Low penetrance of HFE mutation in an English population. Blood, 92(1), 324A.
  • Olynyk, J., Cullen, D., Rossi, R., et al., (1998). Clinical expression of the hemochromatosis genotype Cys282Tyr in the Busselton population. Hepatology, 28, 528A.
  • Leggett, B. A., Brown, N. N., Bryant, S. J., et al., (1990). Factors affecting the concentration of serum ferritin in a healthy Australian population. Clin. Chem., 36, 1350–1355.
  • Powell, L. W., Jazwinska, E. and Halliday, J. W. (1994). Primary iron overload. In “Iron Metabolism in Health and Disease”, edited by J. H. Brock, J. W. Halliday, M. J. Pippard and L. W. Powell, London, Saunders, pp 228–270.
  • Crawford, D. H., Jazwinska, E. C., Cullen, L. M. and Powell, L. W. (1998). Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology, 114, 1003–1008.
  • Pietrangelo, A. and Camaschella, C. (1998). Molecular genetics and control of iron metabolism in hemochromatosis. Haematologica, 83, 456–461.
  • Feder, J.N., Penny, D. M., Irrinki, A., et al., (1998). The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. U.S.A., 95, 1473–1477.
  • Gross, C. N., Irrinki, A., Feder, J. N. and Enns, C. A. (1998). Co-trafficking of HFE, a non-classical major histocompatibility complex class 1 protein, with the transferrin receptor implies a role in intracellular iron regulation. J. Biol. Chem., 273, 22068–22074.
  • Feder, J. N., Tsuchihashi, Z., Irrinki, A., et al., (1997). The hemochromatosis founder mutation in HLA-A disrupts beta 2-microglobulin interaction and cell surface expression. J. Biol. Chem., 272, 14025–14028.
  • Cairo, G., Recalcati, S., Montosi, G., et al., (1997). Inappropriately high iron regulatory protein activity in monocytes of patients with genetic hemochromatosis. Blood, 89, 2546–2553.
  • Shaheen, N. J., Bacon, B. R. and Grimm, I. S. (1998). Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation. Hepatology, 28, 526–529.
  • Bacon, B. R. and Sadiq, S. A. (1997). Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am. J. Gastroenterol., 92, 784–789.
  • Niederau, C., Fischer, R., Purschel, A., et al., (1996). Longterm survival in patients with hereditary hemochromatosis. Gastroenterology, 110, 1107–1119.
  • Powell, L. W., Summers, K. W., Board, P. G., et al., (1990). Expression of hemochromatosis in homozygous subjects: implications for early diagnosis and prevention. Gastroenterology, 98, 1625–1632.
  • Adams, P. C. and Valberg, L. S. (1996). Evolving expression of hereditary hemochromatosis. Semin. Liver. Dis., 16, 47–54.
  • Niederau, C., Strohmeyer, G. and Stremmel, W. (1994). Epidemiology, clinical spectrum and prognosis of hemochromatosis. Adv. Exp. Biol. Med., 356, 303–308.
  • Sinigaglia, L., Fargion, S., Fracanzani, A. L., et al., (1997). Bone and joint involvement in genetic hemochromatosis: role of cirrhosis and iron overload. J. Rheumatol., 24, 1809–1813.
  • Chevrant-Breton, J., Simon, M., Bourel, M. and Ferrand, B. (1977). Cutaneous manifestations of idiopathic hemochromatosis. Arch. Dermatol., 113, 161–165.
  • Iancu, T. C., Deugnier, Y., Halliday, J. W., Powell, L. W. and Brissot, P. (1997). Ultrastructural sequences during iron overload in genetic hemochromatosis. J. Hepatol., 27, 628–638.
  • Hsing, A. W., McLaughlin, J. K., Olsen, J. H., et al., (1995). Cancer risk following primary hemochromatosis: a population-based cohort study in Denmark, Int. J. Cancer, 60, 160–162.
  • Hramiak, I. M., Finegood, D. T. and Adams, P. C. (1997). Factors affecting glucose tolerance in hereditary hemochromatosis. Clin. Invest. Med., 20, 110–118.
  • Bezwoda, W. R., Bothwell, T. H., van der Walt, L. A., Kronhein, S. and Pimstone, N. L. (1977). An investigation into gonadal dysfunction in patients with idiopathic haemochromatosis. Clin. Endocrinol., 6, 377–385.
  • Siminosky, K., D'Costa, M. and Walfish, P. G. (1990). Hypogonadotrophic hypogonadism in idiopathic hemochromatosis: evidence for combined hypothalamic and pituitary involvement. J. Endocrinol. Invest., 13, 849–854.
  • Bonkovsky, H. L., Fitzpatrick, M., Pimstone, N., et al., (1998). Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology, 27, 1661–1669.
  • Roberts, A. G., Whatley, S. D., Morgan, R., et al., (1997). Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet, 349, 321–323.
  • Stuart, K. A., Busfield, F., Jazwinska, E.C., et al., (1998). 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., 28, 404–409.
  • George, K. D., Goldwurm, S., MacDonald, G. A., et al., (1998). Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology, 114, 311–318.
  • Piperno, A., Vergani, A., Malosio, I., et al., (1998). Hepatic iron concentrations in patients with chronic viral hepatitis: role of HFE gene mutations. Hepatology, 28, 1105–1109.
  • Smith, B. C., Gorve, J., Guzail, M. A., et al., (1998). Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology, 27, 1695–1699.
  • Witte, D. L., Crosby, W. H., Edwards, C. Q., Fairbanks, V. F. and Mitros, F. A. (1996). Hereditary hemochromatosis. Clin. Chim. Acta, 245, 139–200.
  • McLaren, C. E., McLachlan, G., Halliday, J. W., et al., (1998). Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis. Gastroenterology, 114, 543–549.
  • Adams, P. C. and Chakrabarti, S. (1998). Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology, 114, 319–323.
  • Bothwell, T. H., Abrahams, C., Bradlow, B. A. and Charlton, R. W. (1969). Idiopathic and Bantu hemochromatosis: a comparative histological study. Arch. Path., 79, 163–168.
  • Torrance, J. D. and Bothwell, T. H. (1980). Tissue iron stores. In “Methods in Hematology“, edited by J. D. Cook, New York, Churchill Livingstone, p 9.
  • George, P. M., Conaghan, C., Angus, H. B., Walmsley, T. A. and Chapman, B. A. (1996). Comparison of histological and biochemical hepatic iron indexes in the diagnosis of genetic hemochromatosis. J. Clin. Path., 49, 159–163.
  • Bassett, M., Halliday, J. W. and Powell, L. W. (1986). Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology, 6, 24–29.
  • Adams, P. C., Bradley, C. and Henderson, A. R. (1997). Evaluation of the hepatic iron index as a diagnostic criterion for genetic hemochromatosis. J. Lab. Clin. Med., 130, 509–514
  • Sallie, R. W., Reed, W. D. and Shilkin, K. B. (1991). Confirmation of the efficacy of the hepatic tissue iron index in differentiating genetic haemochromatosis from alcoholic liver disease complicated by alcoholic haemosiderosis. Gut, 32, 207–210.
  • Powell, L. W. and Jazwinska, E. C. (1996). Hemochromatosis in heterozygotes. N. Eng. J. Med., 335, 1837–1839.
  • Camaschella, C., Roetto, A., Cicilano, M., et al., (1997). Juvenile and adult hemochromatosis are distinct genetic disorders. Eur. J. Hum. Genet., 5, 371–375.
  • Kelly, A. L., Rhodes, D. A., Roland, J. M., Schofield, P. and Cox, T. M. (1998). Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. Quart. J. Med., 91, 607–618.
  • Friedman, B. M., Baynes, R. D., Bothwell, T. H., et al., (1990). Dietary iron overload in southern African rural blacks. S. Afr. Med. J., 78, 301–305.
  • Moyo, V. M., Mandishona, E., Hasstedt, S. J., et al., (1998). Evidence of genetic transmission in African iron overload. Blood, 91, 1–9.
  • Barton, J. C., Edwards, C. Q., Bertoli, L. F., Shroyer, T. W. and Hudson, S. L. (1995). Iron overload in African Americans. Am. J. Med., 99, 616–623.
  • Wurapa, R. K., Gordeuk, V. R., Brittenham, G. R., et al., (1996). Primary iron overload in African Americans. Am. J. Med., 101, 9–18.
  • Propper, R. D., Cooper, B., Rufo, R. R., et al., (1977). Continuous subcutaneous administration of deferoxamine in patients with iron overload. N. Eng. J. Med., 297, 418–423.
  • Balan, V., Baldus, W., Fairbanks, V., et al., (1994). Screening for hemochromatosis: A cost-effectiveness study based on 12,258 patients. Gastroenterology, 107, 453–459.
  • Buffone, G. J. and Beck, J. R. (1994). Cost-effectiveness analysis for evaluation of screening programs: Hereditary hemochromatosis. Clin. Ghent., 40, 1631–1636.
  • Phatak, P. D., Guzman, G., Woll, J., Robeson, A. and Phelps, C. E. (1994). Cost-effectiveness of screening for hemochromatosis. Arch. Int. Med., 154, 769–776.
  • Bassett, M. L., Halliday, J. W., Bryant, S., Dent, O. and Powell, L. W. (1988). Screening for hemochromatosis. Ann. N. Y. Acad. Sci., 526, 274–289.
  • Edwards, C. Q., Griffen, L. M., Goldgar, D., et al., (1988). Prevalence of hemochromatosis among 11065 presumably healthy blood donors. N. Eng. J. Med., 318, 1355–1362.
  • Meyer, T., Baynes, R., Bothwell, T., et al., (1990). Phenotypic expression of the HLA linked iron-loading gene in males over the age of 40 years: A population study using serial ferritin estimations. J. Intern. Med., 227, 397–406.
  • Niederau, C., Niederau, C. M., Lange, S., et al., (1998). Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany. Ann. Intern. Med., 128, 337–345.
  • Bassett, M. L., Leggett, B. A., Halliday, J. W., Webb, S. and Powell, L. W. (1997). Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers. J. Hepatol., 27, 517–524.
  • Burke, W., Thomson, E., Khoury, M. J., et al., (1998). Hereditary hemochromatosis: gene discovery and its implications for population-based screening. J. Amer. Med. Ass., 280, 172–178.
  • Gambino, R. (1990). Routine screening for iron status. Hospital Practice, 26(3), 41–44.

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