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Leukemia & Lymphoma Volume 43, 2002 - Issue 3
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Research Article

Hemochromatosis Gene in Leukemia and Lymphoma

M. Tevfik Dorak Department of Epidemiology and International Health, School of Public Health, University of Alabama at Birmingham, 1665 University Blvd, Room 624B, Birmingham, AL 35294-0022, USA
,
Alan K. Burnett Department of Haematology, University of Wales College of Medicine, Cardiff CF14 4XN, UK
&
Mark Worwood Department of Haematology, University of Wales College of Medicine, Cardiff CF14 4XN, UK
Pages 467-477 | Published online: 01 Jul 2009

  • The MHC sequencing consortium (1999) "Complete sequence and gene map of a human major histocompatibility complex", Nature 401, 921-923.
  • Marsh, S.G., Bodmer, J.G., Albert, E.D., Bodmer, W.F., Bontrop, R.E., Dupont, B., el at., (2001) "Nomenclature for the factors of the HLA system. 2000", Tissue Antigens 57, 236-283.
  • 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.
  • Jazwinska, E.C., Lee, S.C., Webb, S.I., Halliday, J.W. and Powell, L.W. (1993) "Localization of the hemochromatosis gene close to D6S105", American Journal of Human Genetics 53, 347-352.
  • Lonjou, C., Collins, A., Ajioka, R.S., Jorde, L.B., Kushner, J.P. and Morton, N.E. (1998) "Allelic association under map error and recombinational heterogeneity: a tale of two sites", Proceedings of the National Academy of Sciences USA 95, 11366-11370.
  • Malfroy, L., Roth, M.P., Carrington, M., Borot, N., Volz, A., Ziegler, A. and Coppin, H. (1997) "Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex", Genomics 43, 226-231.
  • Feder, J.N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D.A., Basava, A., et al., (1996) "A novel MHC class Hike gene is mutated in patients with hereditary haemochromatosis", Nature Genetics 13, 399-408.
  • Chorney, M.J., Sawadi, I., Gillespie, G.A., Srivastava, R., Pan, J. and Weissman, S.M. (1990) "Transcription analysis, physical mapping, and molecular characterization of a nonclassical human leukocyte antigen class I gene", Molecular and Cellular Biology 10, 243-253.
  • de Villiers, J.N., Scholtz, C.L., Hoogendijk, C.F. Cawood, E.J. and Kotze, M.J. (1998) "Human gene mutations. Gene symbol: HEE. Disease: hereditary haemochromatosis", Human Genetics 102, 127.
  • Riegert, P., Gilfillan, S., Nanda, I., Schmid, M. and Bahram, S. (1998) 'The mouse HFE-gene", Immunogenetics 47, 174-177.
  • Gerhard, G.S., Ten Elshof, A.E. and Chorney, M.J. (1998) "Hereditary haemochromatosis as an immunological disease", British Journal of Haematology 100, 247-255.
  • Lebron, J.A., Bennett, M.J., Vaughn, D.E., Chirino, A.J., Snow, P.M., Mintier, G.A., Feder, J.N. and Bjorkman, P.J. (1998) "Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor", Cell 93, 111-123.
  • Bennett, M.J., Lebron, J.A. and Bjorkman, P.J. (2000) "Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor", Nature 403, 46-53.
  • Drakesmith, H. and Townsend, A. (2000) "The structure and function of HFE", Bioessays 22, 595-598.
  • Hashimoto, K., Hirai, M. and Kurosawa, Y. (1997) "Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene", Biochemical and Biophysical Research Communications 230, 35-39.
  • Parkkila, S., Parkkila, A.K., Waheed, A., Britton, R.S. Zhou, X.Y., Fleming, R.E., Tomatsu, S., Bacon, B.R. and Sly, W.S. (2000) "Cell surface expression of HFE protein in epithelial cells, macrophages, and monoeytes", Haematologica 85, 340-345.
  • Chitambar, C.R. and Wereley, J.P. (2001) "Iron transport in a lymphoid cell line with the hemochromatosis C282Y mutation", Blood 97, 2734-2740.
  • Worwood, M. (1998) "Haemochromatosis: pathological or beneficial. Schweizerische Medizinische Wochenschrift", Journal Suisse De Medecine 128, 1925-1935.
  • Cardoso, E.M., Stal, P., Hagen, K., Cabeda, J.M., Esin, S., de Sousa, M. and Hultcrantz, R. (1998) "HFE mutations in patients with hereditary haemochromatosis in Sweden", Journal of Internal Medicine 243, 203-208.
  • Piperno, A., Sampietro, M., Pietrangelo, A., Arosio, C., Lupica, L., Montosi, G., et al., (1998) "Heterogeneity of hemochromatosis in Italy", Gastroenterology 114, 996-1002.
  • Papanikolaou, G., Politou, M., Terpos, E., Fourlemadis, S., Sakellaropoulos, N. and Loukopoulos, D. (2000) "Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity", Blood Cells. Molecules, and Diseases 26, 163-168.
  • Mura, C., Raguenes, O. and Feret, C. (1999) "HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis", Blood 93, 2502-2505.
  • Barton, J.C., Sawada-Hirai, R., Rothenberg, B.F., and Acton, R.T. (1999) "Two novel missense mutations of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands", Blood Cells. Molecules, and Diseases 25, 147-155.
  • Pointon, J.J., Wallace, D., Merryweather-Clarke, A.T. and Robson, K.J. (2000) "Uncommon mutations and polymorphisms in the hemochromatosis gene", Genetic Testing 4, 151-161.
  • Feder, J.N., Tsuchihashi, Z., Irrinki, A., Lee, V.K., Mapa, F.A., Morikang, E., Prass, C.E., Stames, S.M., Wolff, R.K., Parkkila, S., Sly, W.S and Schatzman, R.C. (1997) "The hemochromatosis founder mutation in HLA-H disrupts b2-microglobulin interaction and cell surface expression", Journal of Biological Chemistry 272, 14025-14028.
  • Waheed, A., Parkkila, S., Zhou, X.Y., Tomatsu, S., Tsuchihashi, Z., Feder, J.N., et al., (1997) "Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with b2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells", Proceedings of the National Academy of Sciences USA 94, 12384-12389.
  • Rosmorduc, O., Poupon, R., Nion, I., Wendum, D., Feder, J., Bereziat, G. and Hermelin, B. (2000) "Differential HFE allele expression in hemochromatosis heterozygotes", Gastroenterology 119, 1075-1086.
  • Beutler, E., (1997) "The significance of the 187G (H63D) mutation in hemochromatosis [letter]", American Journal of Human Genetics, 61, 762-764.
  • Jackson, H.A., Carter, K., Darke, C., Guttridge, M.G., Ravine, D., Hutton, R.D., Napier, J.A. and Worwood, M. (2001) "HFE mutations, iron deficiency and overload in 10,500 blood donors", British Journal of Haematology. 114, 474-484.
  • Worwood, M., Raha-Chowdhury, R., Doruk, M.T., Darke, C., Bowen, D.J. and Burnett, A.K. (1994) "Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype", British Journal of Haematology 86, 863-866.
  • Worwood, M., Dorak, M.T. and Raha-Chowdhury, R. (1994) "Haplotypes in linkage disequilibrium with the hemochromatosis gene [letter]", American Journal of Human Genetics 55, 585-586.
  • Crawford, D., Powell, L., Leggett, B., Francis, J., Fletcher, L., Webb, S., Halliday, J. and Jazwinska, E. (1995) "Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene", American Journal of Human Genetics 57, 362-367.
  • Pipemo, A., Arosio, C., Fargion, S., Roetto, A., Nicoli, C., Girelli, D, Sbaiz, L., Gasparini, P., Bouri, G., Sampietro, M. and Camaschella, C. (1996) "The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients", Hepatology 24, 43-46.
  • Raha-Chowdhury, R., Worwood, M., Clare, M. and Bomford, A. (1999) "Relationship between the C282Y mutation in HFE, the ancestral haplotype and phenotype in haemochromatosis [abstract]''. Biolron 99, Sorrento, May 23-28.
  • Thomas, W., Fullan, A., Loeb, D.B., McClelland, E.E., Bacon, B.R. and Wolff, R.K. (1998) "A haplotype and linkage disequilibrium analysis of the hereditary hemochroniatosis gene region", Human Genetics 102, 517-525.
  • Ajioka, R.S., Jorde, L.B., Gruen, J.R., Yu, P., Dimitrova, D., Barrow, J., Radisky, E., Edwards, C.Q. Griffen, L.M. and Kushner, J.P (1997) "Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes", American Journal of Human Genetics 60. 1439-1447.
  • Worwood, M., Dorak, M.T., Nicklin, S., Stone, C. Pointon, J. and Darke, C. (1996) 'The frequency of the haemochromatosis-associated genotype D6S265- 1:D6S105-8 in blood donors", British Journal of Haematology 93, 838-840.
  • Dorak, M.T. Burnett, A.K. and Worwood, M. (1994) "Thymusleukaemia antigens: the haemochromatosis gene product?" Immunology and Cell Biology 72, 435-439.
  • van Leeuwen, A., Giphart, M.J., de Groot, G., Morolli, B., Festenstein, H., Nijenhuis, L.E. and van Rood, J.J. (1985) "Two different T-cell systems in humans, one of which is probably equivalent to Qa or TIa in mice", Human Immunology 12, 235-246.
  • van Leeuwen, A., Schrier, P.I., Giphart, M.J., Noordermeer, I.A., Ruiter, D.J., Rubinstein, P. and van Rood, J.J. (1986) 'TCA: a polymorphic genetic marker in leukemias and melanoma cell lines", Blood 67, 1139-1142.
  • Derks, J.P., Hofmans, L., Bruning, H.W. and van Rood, J.J. (1983) "Molecular identification of the TCA alloantigen as the transferrin receptor on T-cells of a leukemic patient with serum from a monozygotic twin brother", Cancer Research 43, 1914-1920.
  • Edwards, C.Q., Griffen, L.M., Dadone, M.M., Skolnick, M.H. and Kushner, J.P. (1986) "Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A", American Journal of Human Genetics 38, 805-811.
  • Dorak, M.T., Sproul. A.M., Gibson, B.E., Burnett, A.K. and Worwood, M. (1999) "The C282Y mutation of HFE is another male-specific risk factor for childhood ALL [letter]", Blood 94, 3957-3958.
  • Feder, J.N., Penny, D.M., Irrinki, A., Lee, V.K., Lebron, J.A., Watson, N., et al., (1998) 'The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding", Proceedings of the National Academy of Sciences USA 95,1472-1477.
  • Gross, C.N., Irrinki, A., Feder, J.N. and Enns, C.A. (1998) "Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation", Journal of Biological Chemistry 273, 22068-22074
  • Roy, CN. Penny, D.M., Feder, J.N. and Enns, C.A. (1999) "The hereditary hemochromatosis protein. HFE, specifically regulates transterrin-mediated iron uptake in HeLa cells", Journal of Biological Chemistry 274, 9022-9028.
  • Feeney, G.P. and Worwood, M. (2001) "The effects of wild-type and mutant HFE expression upon cellular iron uptake in transfected human embryonic kidney cells", Biochimica et Biophysica Acta 1538, 242-251.
  • Salter-Cid, L., Brunmark, A., Peterson, P.A. and Yang, Y. (2000) "The major histocompatibility complex-encoded class I-like HFE abrogates endocytosis of transferrin receptor by inducing receptor phosphorylation", Genes Immunity 1, 409-417.
  • Good, M.F., Powell, L.W. and Halliday, J.W. (1988) "Iron status and cellular immune competence", Blood Reviews 2, 43-49.
  • Stevens, R.G., Jones, D.Y., Micozzi, M.S. and Taylor, P.R. (1988) "Body iron stores and the risk of cancer", New England Journal of Medicine 319, 1047-1052.
  • Weinberg, E.D. (1984) "Iron withholding: a defense against infection and neoplasia", Physiological Reviews 64, 65-102.
  • Toyokuni, S. (1996) "Iron-induced carcinogenesis: the role of redox regulation [Review]", Free Radical Biology and Medicine 20, 553-566.
  • Weiss, G., Wachter, H. and Fuchs, D. (1995) "Linkage of cell-mediated immunity to iron metabolism", Immunology Today 16, 495-500.
  • Deugnier, Y. Turlin, B. and Loreal, O. (1998) "Iron and neoplasia", Hepatology 28(Suppl 1), 21-25.
  • Walker, F.M. and Walker, S.M. (2000) "Effects of iron overload on the immune system", Annals of Clinical and Laboratory Science 30, 354-365.
  • Pietrangelo, A., Cossarizza, A., Monti, D., Ventura, E. and Francesehi, C. (1988) "DNA repair in lymphocytes from humans and rats with chronic iron overload", Biochemical and Biophysical Research Communications 154, 698-704.
  • de Valk, B., Witlox, R.S., van der Schouw, Y.T. and Marx, J.J. (2001) "Biochemical expression of heterozygous hereditary hemochromatosis", European Journal of Internal Medicine 11, 317-321.
  • Roest, M., van der Schouw, Y.T., de Valk, B., Marx, J.J., Tempelman, M.J., de Groot, P.G., Sixma, J.J. and Bamga, J.D. (1999) "Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women", Circulation 100, 1260-1263.
  • Tuomainen, T.P., Kontula, K., Nyyssonen, K., Lakka, T.A., Helio, T. and Salonen, J.T. (1999) "Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation: a prospective cohort study in men in eastern Finland", Circulation 100, 1274-1279.
  • Nelson, R.L., Davis, F.G., Persky, V. and Becker, F. (1995) "Risk of neoplastic and other diseases among people with heterozygosity for hereditary hemochromatosis", Cancer 76, 875-879.
  • Nelson, R.L., Davis, F.G., Sutter, K., Sobin, L.H., Kikendall, J.W. and Bowen, P. (1994) ''Body iron stores and risk of colonic neoplasia", Journal of the National Cancer Institute 86, 455-460.
  • Stevens, R.G., Graubard, B.I., Micozzi, M.S., Neriishi, K. and Blumberg, B.S. (1994) "Moderate elevation of body iron level and increased risk of cancer occurrence and death", International Journal of Cancer 56, 364-369.
  • Knekt, P., Reunanen, A., Takkunen, H., Aromaa, A., Heliavaara, M. and Hakulinen, T. (1994) "Body iron stores and risk of cancer", International Journal of Cancer 56, 379-382.
  • Hsing, A.W., McLaughlin, J.K., Olsen, J.H., Mellemkjaer, L., Wacholder, S., Fraumeni, J.F. and J. (1995) "Cancer risk following primary hemochromatosis: a population-based cohort study in Denmark", International Journal of Cancer 60, 160-162.
  • Tiniakos, G. and Williams, R. (1998) "Cirrhotic process, liver cell carcinoma and extrahepatic malignant tumors in idiopathic haemochromatosis. Study of 71 patients treated with venesection therapy", Applied Pathology 6, 128-138
  • |66] Fracanzani, A.L., Conte, D., Fraquelli, M., Taioli, E., Mattioli, M., Losco, A and Fargion, S (2001) "Increased cancel risk in a cohort of 230 patients with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease", Hepatology 33, 647-651.
  • Hopkins, K.A., Vogelsanp, G.B., Delaney, N.L., Gullette, D.L., Santos, G.W. and Bias, W.B. (1989) "Implication of a gene distal to HLA-A in the etiology of graft-versus-host disease", Transplantation Proceedings 21, 2971-2973.
  • Porto, G., Reimao, R., Goncalves, C., Vicente, C., Justica, B. and de Sousa, M. (1994) "Haemochromatosis as a window into the study of the immunological system: a novel correlation between CD8+ lymphocytes and iron overload", European Journal of Haematology 52, 283-290.
  • Gordeuk, V.R., Ballou, S., Lozanski, G. and Brittenham, G.M. (1992) "Decreased concentrations of tumor necrosis factor-alpha in supernatants of monocytes from homozygotes for hereditary hemochromatosis", Blood 79, 1855-1860.
  • de Sousa, M. and Porto, G. (1998) "The immunological system in hemochromatosis", Hepatology 28(Suppl 1), 1-7.
  • Arosa, F.A., Oliveira, L.C., Porto, G., da Silva, B.M., Kruijer, W., Veltman, J. and de Sousa, M (1997) "Anomalies of the CD8+ T cell pool in haemochromatosis: HLA-A3-linked expansions of CD8+CD28- T cells", Clinical and Experimental Immunology 107, 548-554.
  • Salter-Cid, L., Peterson, P.A. and Yang, Y. (2000) "The major histocompatibility complex-encoded HFE in iron homeostasis and immune function", Immunologic Research 22, 43-59.
  • Cardoso, C., Porto, G., Lacerda, R., Resende, D., Rodriguez, P., Bravo, F, et al., (2001) "T-Cell receptor repertoire in hereditary hemochromatosis: a study of 32 hemochromatosis patients and 274 healthy subjects", Human Immunology 62, 488-499.
  • Santos, M.M., de Sousa, M., Rademakers, L.H., Clevers, H., Marx, J.J. and Schilham, M.W. (2000) "Iron overload and heart fibrosis in mice deficient for both beta2-microglobulin and Ragl", American Journal of Pathology 157, 1883-1892.
  • Ten Elshof, A.E., Brittenham, G.M., Chorney, K.A., Page, M.J., Gerhard, G.S., Cable, E.E. and Chorney, M.J. (1999) "Gamma delta intraepithelial lyraphocytes drive tumor necrosis factor-alpha responsiveness to intestinal iron challenge: relevance to hemochromatosis", Immunological Reviews 167, 223-232.
  • Parkkila, S., Waheed, A., Britton, R.S., Feder, J.N., Tsuchihashi, Z., Schalzman, R.C., et al., (1997) "Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract", Proceedings of the National Academy of Sciences USA 94, 2534-2539.
  • Montosi, G., Paglia, P. Garuti, C., Guzman, C.A., Bastin, C.M., Colombo, M.P., Pietrangelo, A. and Wild-type. H.F.E. (2000) "protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis", Blood 96, 1125-1129.
  • MrLaren, G.D. (1989) "Reticuloendothelial iron stores and hereditary hemochromatosis: a paradox", Journal of laboratory and Clinical Medicine 113, 137-138.
  • Fleming, R.G., Holder, C.C., Tomatsu, S., Waheed, A., Brunt, E.M., Britton, R.S. et. al., (2001) "Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis", Proceedings of the National Academy of Sciences USA 98, 2707-2711.
  • Bahram, S., Gilfillan, S., Kuhn, L.C., Moret, R., Schulze, J.B., Lebeau, A. and Schumann, K. (1999) "Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism", Proceedings of the National Academy of Sciences USA 96, 13312-13317.
  • Blanpain, C., Migeotte, I., Lee, B., Vakili, J., Doranz, B.J., Govaerts, C., et al., (1999) "CCR5 binds multiple CC-chemokines: MCP 3 acts as a natural antagonist", Blood 94, 1899-1905.
  • Dorak, M.T., Chalmers, L.A., Gaffney, D., Wilson, D.W., Galbraith, I., Henderson, N., et al., (1994) "Human major histocompatibility complex contains several leukemia susceptibility genes", Leukemia and Lymphoma 12, 211-222.
  • Chida, S., Hohjoh, H., Hirai, M. and Tokunaga, K. (2001) "Haplotype-specific sequence encoding the protein kinase, interferon-inducible double-stranded RNA-dependent activator in the human leukocyte antigen class II region", Immunogenetics 52, 186-194.
  • Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D. and Robson, K.J (1997) "Global prevalence of putative haemochromatosis mutations", Journal of Medical Genetics 34, 275-278.
  • Beckman, L.E., Saha, N., Spilsyn, V., Van Landeghem, G. and Beckman, L. (1997) "Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism", Human Heredity 47, 263-267.
  • Burt, M.J., George, R.M., Upton, J.D., Collett, J.A., Frampton, C.M., Chapman, T.M., et al., (1998) 'The significance of haemochromatosis gene mutations in the general population: implications for screening", Gut 43, 830-836.
  • Jezequel, P., Bargain, M., Lellouche, E., Geffroy, F. and Dorval, I. (1998) "Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany", Human Genetics 102, 332-333.
  • Beutler, E., Felitti, V., Gelbart, T. and Ho, N. (2000) "The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic", Annals of Internal Medicine 133, 329-337.
  • Olynyk, J.K., Cullen, D.J., Aquilia, S., Rossi, E., Summerville, L. and Powell, L.W. (1999) "A population-based study of the clinical expression of the hemochromatosis gene", New England Journal of Medicine 341, 718-724.
  • Adams, P.C., Kertesz, A.E., McLaren, C.E., Barr, R., Bamford, A. and Chakrabarti, S. (2000) "Population screening for hemochromatosis: a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors", Hepatology 31, 1160-1164.
  • Steinberg, K.K., Copswell, M.K., Chang, J.C., Caudill, S.P., McQuillan, G.M. Bowman, B.A., et al., (2001) "Prevalanes of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States", JAMA 285, 2216-2222.
  • Beutler, E. and Gelbart, T. (1997) "HLA-H mutations in the Ashkenazi Jewish population", Blood Cells, Molecules, and Diseases 23, 95-98.
  • Cassanelli, S., Pignatti, H., Montosi, G., Garuti, C., Mariana, M., Campioli, D., et at., (2001) "Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy", Journal of Hepatology 34, 523-528.
  • Rochette, J., Pointon, J.J., Fisher, C.A., Perera, G., Arambepola, M., Arichchi, D.S., et al., (1999) "Multicentric origin of hemochromatosis gene (HFE) mutations", American Journal of Human Genetics 64, 1056-1062.
  • Merryweather-Clarke, A.T., Pointon, J.J., Jouanolle, A., Rochelle, J. and Robson, K.J. (2000) "Geography of HFF C282Y and H63D mutations", Genetic Testing 4, 183-198.
  • Lucotte, G. and Mercier, G. (2000) "Celtic origin of the C282Y mutation of hemochromatosis", Genetic Testing 4, 163-169.
  • Merryweather-Clarke, A.T., Simonsen, H., Shearman, J.D., Pointon, J.J., Norgaardpedersen, B. and Robson, K.J. (1999) "A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations", Human Mutation 13, 154-159.
  • Steffensen, R., Varming, R. and Jersild, C. (1998) "Decermination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific pimers", Tissue Antigens 52, 230-235.
  • Bulaj, Z.J., Griffen, L.M., Jorde, L.B., Edwards, C.Q. and Kushner, J.P. (1996) "Clinical and biochemical abnormalities in people heterozygous for hemochromatosis", New England Journal of Medicine 335, 1799-1805.
  • Motulsky, A.C. (1979) "Genetics of hemochromatosis [letter]", New England Journal of Medicine 301, 1291.
  • Albin, R.L. (1993) "Antagonistic pleiotropy, mutation accumulation. and human genetic disease", Genetica 91, 279-286.
  • Satta, Y. O'hUigin, C., Takahata, N. and Klein, J. (1994) "Intensity of natural selection al the major histocompatibility complex loci", Proceedings of the National Academy of Sciences USA 91, 7184-7188.
  • Bassett, M.L., Halliday, J.W. and Powell, L.W. (1981) "HLA typing in idiopathic hemochromatosis: distinction between homozygotes and heterozygotes with biochemical expression", Hepatology 1, 120-126.
  • Adams, P.C. (1994) "Prevalence of abnormal iron studies in heterozygotes for hereditary hemochromatosis: an analysis of 255 heterozygotes", American Journal of Hematology 45, 146-149.
  • Datz, C., Haas, T., Rinner, H., Sandhofer, F., Patsch, W. and Paulweber, B. (1998) "Heteroxygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?", Clinical Chemistry 44, 2429-2432.
  • Crawford, D.H., Jazwinska, L.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.
  • McLaren, C.E., McLachlan, G. Halliday, J., et al., (1998) "Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis", Gastroenterology 114, 543-549.
  • Burke, W., Imperatore, G., McDonnell, S.M., Baron, R.C. and Khoury, M.J. (2000) "Contribution of different HFE genotypes to iron overload disease: a pooled analysis", Genetic resting 2, 271-277.
  • Piperno, A., Vergani, A., Malosio, I., Parma, L., Fossati, L., Ricci, A., Bovo, G. Boari, G. and Manda, G. (1998) "Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutation", Hepatology 28, 1105-1109.
  • Van Undeghem, G.F., Beckman, L.E., Wahlin, A., Markevarn, B. and Beckman, L. (1998) "Interaction between haemochromatosis and transferrin receptor genes in multiple mycloma [letter]", Lancet 352, 1285-1286.
  • Beckman, L.E., Van Landeghem, C.F., Sikstrom, C., Wahlin, A., Markevarn, B., Hallmans, G. et al., (1999) "Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders", Carcinogenesis 20, 1231-1233.
  • Beckman, L.F., Hagerstrand, I., Stealing, R. Van Landeghem, G. F. and Beckman, L. (2000) "Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma", Oncology 59, 317-322.
  • Macdonald, G.A., Tarish, J., Whitehall, V.J., McCann, S.J., Mellick, G.D., Buttenshaw, R.L., Johnson, A.G., Young, J. and Leggen, B.A. (1999) "No evidence of increased risk for colorectal cancer in individuals heterozygous for the Cys282Tyr haemochromatosis mutation", Journal of Gastroenterology and Hepatology 14, 1188-1191.
  • Porto, C., Alves, M., Rodrigues, P.N., Cabeda, J.M., Portal, C. Ruivo, A., et al., (1998) "Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation. HLA-A29, and non-classical forms of hemochromatosis", Immunogenetics 47, 404-410.
  • Dorak, M.T., Lawson, T., Machulla, H.K.G., Darke, C., Mills, K.I. and Burnett, A.K. (1999) "Unravelling an HLA DR association in childhood acute lymphoblastic leukemia", Blood 94, 694-700.
  • Gimferrer, E., Nomdedeu, J., Gich, I., Barcelo, M.J. and Baiget, M. (1999) "Prevalence of hemochromatosis related HFE gene mutations in patients with acute myeloid leukemia [letter]", Leukemia Research 23, 597-598.
  • Gross, L. (1974) "Facts and theories on viruses causing cancer and leukemia", Proceedings of the National Academy of Sciences USA 71, 2013-2017.
  • [118| Putaznik, D., Groshen, S., Miller, D., Bagin, R. Bhalla, R., Schwartz, M. and de Sousa, M. (1987) "Association of serum iron, serum transterrin saturation, and serum ferritin with survival in acute lymphocytic leukemia", American Journal of Pediatric Hematology and Oncology 9, 350-355.
  • Nancarrow, D.J., Walker, G.J., Weber, J.L., Walters, M.K., Palmer, J.M. and Hayward, N.K. (1992) "Linkage mapping of melanoma (MLM) using 172 microsatellite markers", Genomics 14, 939-947.
  • Walker, G.J., Nancarrow, D.J. Walters, M.K., Palmer, J.M., Weber, J.L. and Hayward, N.K. (1994) "Linkage analysis in familial melanoma kindreds to markers on chromosome 6p", International Journal of Cancer 59, 771-775.
  • Blanche, H., Cherif, D., Dausset, J., Berger, R. and Cann, H.M. (1991) "Physical and genetic localisation of a human t-complex homologue 2 cM distal to HLA", Cytogenetics and Cell Genetics HGM1158, 1907-1908.
  • Amadou, C., Ribouchon, M.T., Mattei, M.G., Jenkins, N.A., Gilbert, D.J., Copeland, N.G., et al., (1995) "Localization of new genes and markers to the distal part of the human major histocompatibility complex (MHC) region and comparison with the mouse: new insights into the evolution of mammalian genomes", Genomics 26, 9-20.
  • Tutaro, A. Roetto, A., Rommens, J.M., Grifa, A., Carella, M., d'Agmma, L., et al., (1998) "Generation of a transcription map of a IMbase region containing the HFE gene (6p22)", European Journal of Human Genetics 6, 105-113.
  • Henry, J., Miller, M.M. and Pontarotti, P. (1999) "Structure and evolution of the extended B7 family", Immunology Today 20, 285-288.
  • el Kahloun, A., Vernel, C. Jouanolle, A.M., Boretto, J., Mauvieux, V., Le Gall, J.Y., et al., (1992) "A continuous restriction map from HLA-E to HLA-F Structural comparison between different HLA-A haplotypes", Immunogenetics 35, 183-189.
  • Venditti, C.P., Chorney, M.J. and Class, I. (1992) "gene contraction within the HLA-A subregion of the human MHC", Genomics 14, 1003-1009.
  • Mitsuishi, Y., Falkenrodt, A., Urlacher, A., Tongio, M.M. and Mayer, S. (1986) "New human MHC class I antigens segregating with HLA-A antigens detected on some lymphocyte subpopulations", Human Immunology 15, 175-197.
  • Matera, L., Mon, M., Geuna, M., Buttiglieri, S. and Palestro, G. (2000) "Prolactin in autoimmunity and antitumor defence", Journal of Neuroimmunology 109, 47-55.
  • Van Cong, N., Fichelson, S., Gross, M.S., Sola, B., Bordereaux, D., de Tand, M.E. et al., (1989) 'The human homologues of Fim1, Fim2/c-Fms. and Fim3, three retroviral integration regions involved in mouse myeloblastic leukemias, are respectively located on chromosomes 6p23, 5q23, and 3q27", Human Genetics 81, 257-263.
  • Nelson, J.B., Hedican, S.P., George, D.J., Reddi, A.H., Piantadosi, S., Eisenberger, M.A. and Simons, J.W. (1993) "Identification of endothelin-1 in the pathophysiology of metastatic adenocarcinoma of the prostate", Nature Medicine 1, 944-999.
  • [131| Asham, E.H., Loizidou, M. and Taylor, I. (1998) "Endothelin-1 and tumour development", European Journal of Surgical Oncology 24, 57-60.
  • Hoehe, M.R., Ehrenreich, H., Otterud, B., Caenazzo, L., Plaetke, R., Zander, H. and Leppert, M. (1993) "The human endothelin-1 gene (EDN1) encoding a peptide with potent vasoactive properties maps distal to HLA on chromosome arm 6p in close linkage to D6S89", Cytogenetics and Cell Genetics 62, 131-135.
  • Morey, K.A., Razandi, M., Pedram, A., Hu, R.M., Prins, B.A. and Levin, E.R. (1998) "Oestrogen and progesterone inhibit the stimulated production of endothelin-1", Biochemical Journal 330, 1097-1105.
  • Martin, M.P., Harding, A., Chadwick, R., Kronick, M., Cullen, M., Lin, L., et al., (1997) "Characterization of 12 microsatellite loci of the human MHC in a panel of reference cell lines", Immunogenetics 47, 131-138.
  • Cattley, S.K., Williamson, J.F., Tay, G.K., Martinez, O.P., Gaudieri, S. and Dawkins, R.L. (2000) "Further characterization of MHC haplotypes demonstrates conservation telomeric of HLA-A: update of the 4AOH and 10IHW cell panels", European Journal of Immunogenetics 27, 397-426.
  • Worwood, M., Raha-Chowdhury, R., Robson, K.J., Pointon, J., Shearman, J.D. and Darke, C. (1997) "The HLA A1-B8 haplotype extends 6Mb beyond HLA-A: associations between HLA-A, B, F and 15 microsatellite markers", Tissue Antigens 50, 521-526.

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