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  • Adams, P.C. & Valberg, L.S. (1996) Evolving expression of hereditary hemochromatosis. Seminars in Liver Disease, 15, 4754.
  • Adams, P.C., Deugnier, Y., Moirand, R. & Brissot, P. (1997) The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis. Hepatology, 25, 162166.
  • Andrews, N.C. (1999) Disorders of iron metabolism. New England Journal of Medicine, 341, 19861995.DOI: 10.1056/NEJM199912233412607
  • Camaschella, C. (1998) Juvenile hemochromatosis. In: Hereditary diseases of the liver (ed. by L.Powell). Baillière's Clinical Gastroenterology, 12, 227235.
  • Camaschella, C., Roetto, A., Cicalano, M., Pasqueo, P., Bosio, S., Gubetta, L., Di Vito, F., Girelli, D., Totano, A., Carella, M., Grifa, A. & Gasparini, P. (1997) Juvenile and adult hemochromatosis are distinct genetic disorders. European Journal of Human Genetics, 5, 371375.
  • Camaschella, C., Fargion, S., Sampietro, M., Roetto, A., Bosio, S., Garozzo, G., Arosio, C. & Piperno, A. (1999) Inherited HFE-unrelated hemochromatosis in Italian families. Hepatology, 29, 15631564.
  • Camaschella, C., De Gobbi, M. & Roetto, A. (2000a) Hereditary hemochromatosis: progress and perspective. Review of Clinical Experimental Hematology, 4, 302321.
  • Camaschella, C., Roetto, A., Cali, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totano, A. & Gasparini, P. (2000b) The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22. Nature Genetics, 25, 1415.
  • Carella, M., D'Ambrosio, L., Totano, A., Grifa, A., Valentino, M.A., Piperno, A., Girelli, D., Roetto, A., Franco, B., Gasparini, P. & Camashella, C. (1997) Mutation analysis of HLA-H gene in Italian hemochromatosis patients. American Journal of Human Genetics, 60, 828832.
  • Cazzola, M., Ascari, E., Barosi, G., Claudiani, G., Dacco, M., Kaltwasser, J.P., Panaiotopoulos, N., Schalk, K.P. & Werner, E.E. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Human Genetics, 65, 149154.
  • Cazzola, M., Cerani, P., Rovati, A., Iannone, A., Claudiani, G. & Bergamaschi, G. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. Blood, 92, 29792981.
  • Cazzola, M., Beguin, Y., Bergamaschi, G., Guardone, R., Cerani, P., Barella, S., Cao, A. & Galanello, R. (1999) Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis. British Journal of Haematology, 106, 752755.
  • De Gobbi, M., Pasquero, P., Brunello, F., Paccotti, U., Mazza, U. & Camaschella, C. (2000) Juvenile hemochromatosis associated with β-thalassaemia treated by phlebotomy and recombinant human erythropoietin. Haematologica, 85, 865867.
  • Farina, G., Pedrotti, C., Cerani, P., Rovati, A., Strada, E., Bergamaschi, G. & Montanari, L. (1995) Successful pregnancy following gonadotropin therapy in a young female with juvenile idiopathic hemochromatosis and secondary hypogonadotropic hypogonadism. Haematologica, 80, 335337.
  • Feder, J.N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D.A., Basava, A., Dormishian, F., Domingo, R.J., Ellis, M.C., Fullan, A., Hinton, L.M., Jones, N.L., Kimmel, B.E., Kronmal, G.S., Lauer, P., Lee, V.K., Loeb, D.B., Mapa, F.A., McClelland, E., Meyer, N.C., Mintier, G.A., Moeller, N., Moore, T., Morikang, E., Prass, C.E., Quintana, L., Starnes, S.M., Schatzman, R.C., Brunke, K.J., Drayana, D.T., Rish, N.J., Bacon, B.R. & Wolff, R.K. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics, 13, 399408.
  • Finch, C. (1994) Regulation of iron balance in humans. Blood, 84, 697702.
  • Haddy, T.B., Castro, O.L. & Rana, S.R. (1988) Hereditary hemochromatosis in children, adolescents and young adults. American Journal of Pediatric Hematology and Oncology, 10, 2334.
  • Hershko, C., Link, G. & Cabantchik, I. (1998) Pathophysiology of iron overload. Annals of New York Academy of Science, 850, 191201.
  • Jensen, P.D., Bagger, J.P., Jensen, F.T., Baandrup, U., Christensen, T. & Ellegaard, J. (1993) Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies. European Journal of Haematology, 51, 199205.
  • Kaikov, Y., Wadsworth, L.D., Hassall, E., Dimmick, J.E. & Rogers, P.C.J. (1992) Primary hemochromatosis in children; report of three newly diagnosed cases and review of the pediatric literature. Pediatrics, 90, 3742.
  • Kelly, A.L., Rhodes, D.A., Roland, J.M., Schofield, P. & Cox, T.M. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron storage disease. Quarterly Journal of Medicine, 91, 607618.
  • Kelly, D.A. (1998) Current results and evolving indications for liver transplantation in children. Journal of Pediatric Gastroenterology and Nutrition, 27, 214221.
  • Knisely, A.S. (1992) Neonatal hemochromatosis. Advances in Pediatrics, 39, 383403.
  • Lamon, J.M., Marynick, S.P., Rosenblat, R. & Donnelly, S. (1978) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterology, 76, 178183.
  • Lebron, J.A., Bennett, M.J., Vaughn, D.E., Chirino, A.J., Snow, P.M., Mintier, G.A., Feder, J.N. & Bjorkman, P.J. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell, 93, 111123.
  • Moirand, R., Jouanolle, A.M., Brissot, P., Le Gall, J.Y., David, V. & Deugnier, Y. (1999) Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology, 116, 372377.
  • Montosi, G., Donovan, A., Totaro, A., Garuti, C., Pignatti, E., Cassanelli, S., Trenor, C.C., Gasparini, P., Andrews, N.C. & Pietrangelo, A. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. Journal of Clinical Investigation, 108, 619623.
  • Njajou, O.T., Vaessen, N., Joosse, M., Berghuis, B., Van Dongen, J.W., Breuning, M.H., Snijders, P.J., Rutten, W.P., Sandkuijl, L.A., Oostra, B.A., Van Duijn, C.M. & Heutink, P. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nature Genetics, 28, 213214.
  • Olivieri, N.F. & Brittenham, G.M. (1997) Iron chelating therapy and the treatment of thalassemia. Blood, 89, 739761.
  • Papanikolaou, G., Politou, M., Terpos, E., Fourlemadis, S., Sakellaropoulos, N. & Loukopoulos, D. (2000) Hereditary hemochromatosis. HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Molecules Disease, 26, 163168.
  • Papanikolaou, G., Politou, M., Roetto, A., Bosio, S., Sakelaropoulos, N., Camaschella, C. & Loukopoulos, D. (2001) Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Molecules Disease, 27, 744749.
  • Piperno, A., Arosio, C., Fargion, S., Roetto, A., Nicoli, C., Girelli, D., Sbaiz, L., Gasparini, P., Boari, G., Sampietro, M. & Camaschella, C. (1996) The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology, 24, 4346.
  • Piperno, A., Sampietro, M., Pietrangelo, A., Arosio, C., Ludica, L., Montosi, G., Vergani, A., Fraquelli, M., Girelli, D., Pasquero, P., Roetto, A., Gasparini, P., Fargion, S., Conte, D. & Camaschella, C. (1998) Heterogeneity of hemochromatosis in Italy. Gastroenterology, 114, 9961002.
  • Piperno, A., Mariani, R., Arosio, C., Vergani, A., Bosio, S., Fargion, S., Sampietro, M., Girelli, D., Fraquelli, M., Conte, D., Fiorelli, G. & Camaschella, C. (2000) Haemochromatosis in patients with β-thalassaemia trait. British Journal of Haematology, 111, 908914.DOI: 10.1046/j.1365-2141.2000.02436.x
  • Rivard, S.R., Mura, C., Simard, H., Simard, R., Grimard, D., Le Gac, G., Raguenes, O., Ferec, C. & De Braekeleer, M. (2000) Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Blood Cells Molecules Disease, 26, 1014.
  • Rivard, S.R., Mura, C. & Simard, R. (2001) Confirmation of linkage of juvenile hemochromatosis on chromosome 1q in families from Saguenay-Lac-Saint-Jean (Quebec, Canada). European Journal of Human Genetics, 9, 1258.
  • Roetto, A., Totano, A., Cazzola, M., Cicalano, M., Bosio, S., D'Ascola, G., Carella, M., Zelante, L., Kelly, A.L., Cox, T.M., Gaparini, P. & Camaschella, C. (1999) The juvenile hemochromatosis locus maps to chromosome 1q. American Journal of Human Genetics, 64, 13881393.
  • Roetto, A., Alberti, F., Daraio, F., Calì, A., Cazzola, M., Totano, A., Gasparini, P. & Camaschella, C. (2000) Exclusion of Zirtl as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21. Blood Cells Molecules Disease, 26, 205210.
  • Roetto, A., Totano, A., Piperno, A., Piga, A., Longo, F., Garozzo, G., Calì, A., De Gobbi, M., Gasparini, P. & Camaschella, C. (2001) New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood, 97, 25552560.
  • Sambrook, J., Frisch, E. & Maniatis, T. (1989) Molecular Cloning: a Laboratory Manual, Vol. 1–3. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
  • Trenor, C.C., Campagna, D.R., Sellers, V., Andrews, N.A. & Fleming, M.D. (2000) The molecular defect in hypotransferrinemic mouse. Blood, 96, 11131118.
  • Varkonyi, J., Kaltwasser, J.P., Seidl, C., Kollai, G., Andrikovics, H. & Tordai, A. (2000) A case of non-HFE haemochromatosis presenting with adrenocortical insufficiency. British Journal of Haematology, 109, 252253.DOI: 10.1046/j.1365-2141.2000.01987.x