SEARCH

SEARCH BY CITATION

References

  • Aase, J.M. & Smith, D.W. (1969) Congenital anemia and triphalangeal thumbs: a new syndrome. Journal of Pediatrics, 74, 471474.
  • Abkowitz, J.L., Schaison, G., Boulad, F., Brown, D.L., Buchanan, G.R., Johnson, C.A., Murray, J.C. & Sabo, K.M. (2002) Response of Diamond-Blackfan anemia to metoclopramide: evidence for a role for prolactin in erythropoiesis. Blood, 100, 26872691.
  • Aessopos, A., Karabatsos, F., Farmakis, D., Katsantoni, A., Hatziliami, A., Youssef, J. & Karagiorga, M. (1999) Pregnancy in patients with well-treated beta-thalassemia: outcome for mothers and newborn infants. American Journal of Obstetrics & Gynecology, 180, 360365.
  • Akiyama, M., Yanagisawa, T., Yuza, Y., Yokoi, K., Ariga, M., Fujisawa, K., Hoshi, Y. & Eto, Y. (2005) Successful treatment of Diamond-Blackfan anemia with metoclopramide. American Journal of Hematology, 78, 295298.
  • Alessandri, A.J., Rogers, P.C., Wadsworth, L.D. & Davis, J.H. (2000) Diamond-blackfan anemia and cyclosporine therapy revisited. Journal of Pediatric Hematology/Oncology, 22, 176179.
  • Alter, B.P. (2003) Inherited bone marrow failure syndromes. In: Nathan and Oski’s Hematology of Infancy and Childhood (eds by D.G.Nathan, S.H.Orkin, A.T.Look & D.Ginsburg), pp. 280365. WB Saunders, Philadelphia, PA.
  • Alter, B.P. (2004) Growth hormone and the risk of malignancy. Pediatric Blood Cancer, 43, 534535.
  • Alter, B.P., Kumar, M., Lockhart, L.L., Sprinz, P.G. & Rowe, T.F. (1999) Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. British Journal Haematology, 107, 4954.
  • American Academy of Pediatrics (2006) Immunization in special clinical circumstances. In: Red Book: 2006 Report of the Committee on Infectious Diseases (ed. by L.Pickering), pp. 7678. American Academy of Pediatrics, Elk Grove Village, IL.
  • Anderson, L.J., Holden, S., Davis, B., Prescott, E., Charrier, C.C., Bunce, N.H., Firmin, D.N., Wonke, B., Porter, J., Walker, J.M. & Pennell, D.J. (2001) Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. [See comment]. European Heart Journal, 22, 21712179.
  • Angelucci, E., Baronciani, D., Lucarelli, G., Baldassarri, M., Galimberti, M., Giardini, C., Martinelli, F., Polchi, P., Polizzi, V. & Ripalti, M. (1995) Needle liver biopsy in thalassaemia: analyses of diagnostic accuracy and safety in 1184 consecutive biopsies. British Journal Haematology, 89, 757761.
  • Angelucci, E., Brittenham, G.M., McLaren, C.E., Ripalti, M., Baronciani, D., Giardini, C., Galimberti, M., Polchi, P. & Lucarelli, G. (2000) Hepatic iron concentration and total body iron stores in thalassemia major. New England Journal of Medicine, 343, 327331.
  • August, C.S., King, E., Githens, J.H., McIntosh, K., Humbert, J.R., Greensheer, A. & Johnson, R.B. (1976) Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). Blood, 48, 491498.
  • Balaban, E.P., Buchanan, G.R., Graham, M. & Frenkel, E.P. (1985) Diamond-Blackfan syndrome in adult patients. American Journal of Medicine, 78, 533538.
  • Ball, S.E., Tchernia, G., Wranne, L., Bastion, Y., Bekassy, N.A., Bordigoni, P., Debre, M., Elinder, G., Kamps, W.A., Lanning, M., Leblanc, T. & Makipernaa, A. (1995) Is there a role for interleukin-3 in Diamond-Blackfan anaemia? Results of a European multicentre study. British Journal Haematology, 91, 313318.
  • Ball, S.E., McGuckin, C.P., Jenkins, G. & Gordon-Smith, E.C. (1996) Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. British Journal Haematology, 94, 645653.
  • Bastion, Y., Bordigoni, P., Debre, M., Girault, D., Leblanc, T., Tchernia, G., Ball, S., McGuckin, C., Gordon-Smith, E.C., Bekassy, A., Békassy, A. & Wranne, L. (1994) Sustained response after recombinant interleukin-3 in diamond blackfan anemia. Blood, 83, 617618.
  • Bejaoui, M., Fitouri, Z., Sfar, M.T. & Lakhoua, R. (1993) Failure of immunosuppressive therapy and high-dose intravenous immunoglobulins in four transfusion-dependent, steroid-unresponsive Blackfan-Diamond anemia patients. Haematologica, 78, 3839.
  • Bernini, J.C., Carrillo, J.M. & Buchanan, G.R. (1995) High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. Journal of Pediatrics, 127, 654659.
  • Bobey, N.A., Carcao, M., Dror, Y., Freedman, M.H., Dahl, N. & Woodman, R.C. (2003) Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia. Journal of Pediatric Hematology/Oncology, 25, 914918.
  • Brittenham, G.M. (1995) Disorders of iron metabolism: deficiency and overload. In: Hematology: Basic Principles and Practice (eds by R.Hoffman, E.Benz, S.Shattil, B.Furie, H.Cohen & L.Silberstein), pp. 492523. Churchill Livingstone, New York.
  • Brittenham, G.M., Farrell, D.E., Harris, J.W., Feldman, E.S., Danish, E.H., Muir, W.A., Tripp, J.H. & Bellon, E.M. (1982) Magnetic-susceptibility measurement of human iron stores. New England Journal of Medicine, 307, 16711675.
  • Brittenham, G.M., Allen, C.J., Farrell, D.E. & Harris, J.W. (1989) Hepatic iron stores in thalassemia: non-invasive magnetic measurements. Progress in Clinical and Biological Research, 309, 101106.
  • Brittenham, G.M., Griffith, P.M., Nienhuis, A.W., McLaren, C.E., Young, N.S., Tucker, E.E., Allen, C.J., Farrell, D.E. & Harris, J.W. (1994) Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major. New England Journal of Medicine, 331, 567573.
  • Brown, K.E., Green, S.W., Antunez de Mayolo, J., Bellanti, J.A., Smith, S.D., Smith, T.J. & Young, N.S. (1994) Congenital anaemia after transplacental B19 parvovirus infection. Lancet, 343, 895896.
  • Buchanan, G.R. (2001) Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia. International Diamond-Blackfan Anemia Study Group. Journal of Pediatric Hematology/Oncology, 23, 353356.
  • Campagnoli, M.F., Garelli, E., Quarello, P., Carando, A., Varotto, S., Nobili, B., Longoni, D., Pecile, V., Zecca, M., Dufour, C., Ramenghi, U. & Dianzan, I. (2004) Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica, 89, 480489.
  • Casadevall, N., Croisille, L., Auffray, I., Tchernia, G. & Coulombel, L. (1994) Age-related alterations in erythroid and granulopoietic progenitors in Diamond-Blackfan anaemia. British Journal Haematology, 87, 369375.
  • Cathie, I.A. (1950) Erythrogenesis imperfecta. Archives of Disease in Childhood, 25, 313324.
  • Celiker, M.Y., Arkin, S., Celiker, I., Atsidaftos, E. & Lipton, J.M. (2004) Differentiation and survival of UT-7/Epo cells: a potential in vitro model for erythropoiesis. Pediatric Blood & Cancer, 42, 513.
  • Chen, S., Warszawski, J., Bader-Meunier, B., Tchernia, G., Da Costa, L., Marie, I. & Dommergues, J.P. (2005) Diamond-blackfan anemia and growth status: the French registry. Journal of Pediatrics, 147, 669673.
  • Cmejla, R., Blafkova, J., Stopka, T., Zavadil, J., Pospisilova, D., Mihal, V., Petrtylova, K. & Jelinek, J. (2000) Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. Blood Cells, Molecules, and Diseases, 26, 124132.
  • Cmejla, R., Cmejlova, J., Handrkova, H., Petrak, J. & Pospisilova, D. (2007) Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Human Mutation, 28, 11781182.
  • Davis, B.A. & Porter, J.B. (2000) Long-term outcome of continuous 24-hour deferoxamine infusion via indwelling intravenous catheters in high-risk beta-thalassemia. Blood, 95, 12291236.
  • Dessypris, E.N. & Lipton, J.M. (2003) Red cell aplasia. In: Wintrobe’s Clinical Hematology, 11th edn (eds. by J.P.Greer, J.Foerster, J.N.Lukens, G.M.Rogers, F.Paraskevas & B.E.Glader), pp. 14211437. Lippincott, Williams & Wilkins, Philadelphia.
  • Diamond, L.K. & Blackfan, K. (1938) Hypoplastic anemia. American Journal of Diseases of Children, 56, 464467.
  • Diamond, L.K., Wang, W.C. & Alter, B.P. (1976) Congenital hypoplastic anemia. Advances in Pediatrics, 22, 349378.
  • Dobson, R. (2003) “Saviour sibling” is born after embryo selection in the United States. BMJ, 326, 1416.
  • Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B. & Dahl, N. (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nature Genetics, 21, 169175.
  • Dunbar, A.E., III, Moore, S.L. & Hinson, R.M. (2003) Fetal Diamond-Blackfan anemia associated with hydrops fetalis. American Journal of Perinatology, 20, 391394.
  • Dunbar, C.E., Smith, D.A., Kimball, J., Garrison, L., Nienhuis, A.W. & Young, N.S. (1991) Treatment of Diamond-Blackfan anaemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin 3: sustained remissions following IL-3. British Journal Haematology, 79, 316321.
  • Dyer, C. (2004) Couple allowed to select an embryo to save sibling. BMJ, 329, 592.
  • Dyer, C. (2006) Couple is given go-ahead to use embryo selection to help existing child. BMJ, 332, 114.
  • Eastell, R., Reid, D.M., Compston, J., Cooper, C., Fogelman, I., Francis, R.M., Hosking, D.J., Purdie, D.W., Ralston, S.H., Reeve, J., Russell, R.G., Stevenson, J.C. & Torgerson, D.J. (1998) A UK Consensus Group on management of glucocorticoid-induced osteoporosis: an update. Journal of Internal Medicine, 244, 271292.
  • Ebert, B.L., Lee, M.M., Pretz, J.L., Subramanian, A., Mak, R., Golub, T.R. & Sieff, C.A. (2005) An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. Blood, 105, 46204626.
  • Ellis, S.R. & Lipton, J.M. (2007) Diamond Blackfan anemia: a disorder of red cell development. In: Current Topics in Developmental Biology (ed. by J.Bieker), pp. 215239. Elsevier, Amsterdam, The Netherlands.
  • Faivre, L., Meerpohl, J., Da Costa, L., Marie, I., Nouvel, C., Gnekow, A., Bender-Gotze, C., Bauters, F., Coiffier, B., Peaud, P.Y., Rispal, P., Berrebi, A., Berger, C., Flesch, M., Sagot, P., Varet, B., Niemeyer, C., Tchernia, G. & Leblanc, T. (2006) High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. Haematologica, 91, 530533.
  • Farrar, J., Nater, M., Caywood, E., McDevitt, M., Kowalski, J., Takemoto, C., Talbot, C., Meltzer, P., Esposito, D., Beggs, A., Schneider, H., Grabowska, A., Ball, S., Niewiadomska, E., Sieff, C., Vlachos, A., Atsidaftos, E., Ellis, S., Lipton, J., Gazda, H. & Arceci, R.J. (2007) A large ribosomal subunit protein abnormality in Diamond-Blackfan anemia (DBA). Blood, 110, 131a.
  • Fiorillo, A., Poggi, V., Migliorati, R., Parasole, R., Selleri, C. & Rotoli, B. (1991) Unresponsiveness to erythropoietin therapy in a case of Blackfan Diamond anemia. American Journal of Hematology, 37, 65.
  • Flygare, J. & Karlsson, S. (2007) Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood, 109, 31523154.
  • Flygare, J., Kiefer, T., Miyake, K., Utsugisawa, T., Hamaguchi, I., Da Costa, L., Richter, J., Davey, E.J., Matsson, H., Dahl, N., Wiznerowicz, M., Trono, D. & Karlsson, S. (2005) Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Blood, 105, 46274634.
  • Flygare, J., Aspesi, A., Bailey, J.C., Miyake, K., Caffrey, J.M., Karlsson, S. & Ellis, S.R. (2007) Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood, 109, 980986.
  • Gandon, Y., Olivie, D., Guyader, D., Aube, C., Oberti, F., Sebille, V. & Deugnier, Y. (2004) Non-invasive assessment of hepatic iron stores by MRI. [see comment]. Lancet, 363, 357362.
  • Gasser, C. (1951) Aplastische Anamie (chronische Erythroblastophthise) und Cortison. Schweizerische Medizinische Wochenschrift. Journal Suisse de Medecine, 81, 12411242.
  • Gazda, H.T., Zhong, R., Long, L., Niewiadomska, E., Lipton, J.M., Ploszynska, A., Zaucha, J.M., Vlachos, A., Atsidaftos, E., Viskochil, D.H., Niemeyer, C.M., Meerpohl, J.J., Rokicka-Milewska, R., Pospisilova, D., Wiktor-Jedrzejczak, W., Nathan, D.G., Beggs, A.H. & Sieff, C.A. (2004) RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. British Journal Haematology, 127, 105113.
  • Gazda, H.T., Grabowska, A., Merida-Long, L.B., Latawiec, E., Schneider, H.E., Lipton, J.M., Vlachos, A., Atsidaftos, E., Ball, S.E., Orfali, K.A., Niewiadomska, E., Da Costa, L., Tchernia, G., Niemeyer, C., Meerpohl, J.J., Stahl, J., Schratt, G., Glader, B., Backer, K., Wong, C., Nathan, D.G., Beggs, A.H. & Sieff, C.A. (2006) Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. American Journal of Human Genetics, 79, 11101118.
  • Gazda, H.T., Sheen, M.R., Darras, N., Shneider, H., Sieff, C.A., Ball, S.E., Niewiadomska, E., Newberger, P.E., Atsidaftos, E., Vlachos, A., Lipton, J.M. & Beggs, A.H. (2007) Mutations of the genes for ribosomal proteins L5 and L11 are a common cause of Diamond-Blackfan anemia. Blood, 110, 130a.
  • Geller, G., Drivit, W., Zalusky, R. & Zanjani, E.D. (1975) Lack of erythropoietic inhibitory effect of serum from patients with congenital pure red cell aplasia. New England Journal of Medicine, 292, 198201.
  • Gillio, A.P., Faulkner, L.B., Alter, B.P., Reilly, L., Klafter, R., Heller, G., Young, D.C., Lipton, J.M., Moore, M.A. & O’Reilly, R.J. (1993a) Successful treatment of Diamond-Blackfan anemia with interleukin 3. Stem Cells, 11(Suppl 2), 123130.
  • Gillio, A.P., Faulkner, L.B., Alter, B.P., Reilly, L., Klafter, R., Heller, G., Young, D.C., Lipton, J.M., Moore, M.A. & O’Reilly, R.J. (1993b) Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3. Blood, 82, 744751.
  • Giri, N., Kang, E., Tisdale, J.F., Follman, D., Rivera, M., Schwartz, G.N., Kim, S., Young, N.S., Rick, M.E. & Dunbar, C.E. (2000) Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia. British Journal Haematology, 108, 167175.
  • Glader, B.E. & Backer, K. (1988) Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. British Journal Haematology, 68, 165168.
  • Gomez-Almaguer, D. & Gonzalez-Llano, O. (1992) Danazol in the treatment of Diamond Blackfan anemia (abstract). Blood, 80, 382a.
  • Gomez-Almaguer, D., Ruiz-Arguelles, G.J., Tarin-Arzaga Ldel, C., Gonzalez-Llano, O., Jaime-Perez, J.C., Lopez-Martinez, B., Cantu-Rodriguez, O.G. & Herrera-Garza, J.L. (2003) Reduced-intensity stem cell transplantation in children and adolescents: the Mexican experience. Biology of Blood and Marrow Transplantation, 9, 157161.
  • Grewal, S.S., Kahn, J.P., MacMillan, M.L., Ramsay, N.K. & Wagner, J.E. (2004) Successful hematopoietic stem cell transplantation for Fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood, 103, 11471151.
  • Gripp, K.W., McDonald-McGinn, D.M., La Rossa, D., McGain, D., Federman, N., Vlachos, A., Glader, B.E., McKenzie, S.E., Lipton, J.M. & Zackai, E.H. (2001) Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. American Journal of Medical Genetics, 101, 268274.
  • Gustavsson, P., Willing, T.N., Van Haeringen, A., Tchernia, G., Dianzani, I., Donner, M., Elinder, G., Henter, J.I., Nilsson, P.G., Gordon, L., Skeppner, G., Van’t Veer-Korthof, L., Kreuger, A. & Dahl, N. (1997) Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. Nature Genetics, 16, 368371.
  • Hamaguchi, I., Ooka, A., Brun, A., Richter, J., Dahl, N. & Karlsson, S. (2002) Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. Blood, 100, 27242731.
  • Hamaguchi, I., Flygare, J., Nishiura, H., Brun, A.C., Ooka, A., Kiefer, T., Ma, Z., Dahl, N., Richter, J. & Karlsson, S. (2003) Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer. Molecular Therapy, 7, 613622.
  • Henter, J.I. & Karlén, J. (2007) Fatal agranulocytosis after deferiprone therapy in a child with Diamond-Blackfan anemia. Blood, 109, 51575159.
  • Hershko, C., Cappellini, M.D., Galanello, R., Piga, A., Tognoni, G. & Masera, G. (2004) Purging iron from the heart. British Journal Haematology, 125, 545551.
  • Hoffbrand, A.V., Bartlett, A.N., Veys, P.A., O’Connor, N.T. & Kontoghiorghes, G.J. (1989) Agranulocytosis and thrombocytopenia in patient with Blackfan-Diamond anaemia during oral chelator trial. Lancet, 2, 457.
  • Hoffbrand, A.V., Cohen, A. & Hershko, C. (2003) Role of deferiprone in chelation therapy for transfusional iron overload. Blood, 102, 1724.
  • Huh, W.W., Gill, J., Sheth, S. & Buchanan, G.R. (2002) Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids. Journal of Pediatric Hematology/Oncology, 24, 410412.
  • Iriondo, A., Garijo, J., Baro, J., Conde, E., Pastor, J.M., Sabanes, A., Hermosa, V., Sainz, M.C., Perez de la Lastra, L. & Zubizarreta, A. (1984) Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). Blood, 64, 348351.
  • Jabr, F.I. & Taher, A. (2006) Diamond-Blackfan anemia in remission for 2 years on valproic acid. Haematologica, 91, e47.
  • Jabr, F.I., Aoun, E., Azar, C. & Taher, A. (2004) Diamond-Blackfan anemia responding to valproic acid. Blood, 104, 3415.
  • Janov, A.J., Leong, T., Nathan, D.G. & Guinan, E.C. (1996) Diamond-Blackfan anemia. Natural history and sequelae of treatment. Medicine (Baltimore), 75, 7778.
  • Jensen, P.D., Jensen, F.T., Christensen, T., Nielsen, J.L. & Ellegaard, J. (2003) Relationship between hepatocellular injury and transfusional iron overload prior to and during iron chelation with desferrioxamine: a study in adult patients with acquired anemias. Blood, 101, 9196.
  • Josephs, H.W. (1936) Anemia in infancy and early childhood. Medicine (Baltimore), 15, 307.
  • Krause, P.R. & Klinman, D.M. (1995) Efficacy, immunogenicity, safety, and use of live attenuated chickenpox vaccine. Journal of Pediatrics, 127, 518525.
  • Kuliev, A., Rechitsky, S., Tur-Kaspa, I. & Verlinsky, Y. (2005) Preimplantation genetics: improving access to stem cell therapy. Annals of the New York Academy of Sciences, 1054, 223227.
  • Leblanc, T.M., Da Costa, L., Marie, I., Demolis, P. & Tchernia, G. (2007) Metoclopramide treatment in DBA patients: no complete response in a French prospective study. Blood, 109, 22662267.
  • Lensch, M.W., Rathbun, R.K., Olson, S.B., Jones, G.R. & Bagby, G.C., Jr (1999) Selective pressure as an essential force in molecular evolution of myeloid leukemic clones: a view from the window of Fanconi anemia. Leukemia, 13, 17841789.
  • Leonard, E.M., Raefsky, E., Griffith, P., Kimball, J., Nienhuis, A.W. & Young, N.S. (1989) Cyclosporine therapy of aplastic anaemia, congenital and acquired red cell aplasia. British Journal Haematology, 72, 278284.
  • Link, M.P. & Alter, B.P. (1981) Fetal-like erythropoiesis during recovery from transient erythroblastopenia of childhood (TEC). Pediatric Research, 15, 10361039.
  • Lipton, J.M. (2007) Diamond-Blackfan anemia: “novel” mechanisms—ribosomes and the erythron. Blood, 109, 850851.
  • Lipton, J.M., Kudisch, M., Gross, R. & Nathan, D.G. (1986) Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. Blood, 67, 962968.
  • Lipton, J.M., Federman, N., Khabbaze, Y., Schwartz, C.L., Hilliard, L.M., Clark, J.I. & Vlachos, A. (2001) Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. Journal of Pediatric Hematology/Oncology, 23, 3944.
  • Lipton, J.M., Atsidaftos, E., Zyskind, I. & Vlachos, A. (2006) Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer, 46, 558564.
  • Lucarelli, G., Galimberti, M., Polchi, P., Angelucci, E., Baronciani, D., Giardini, C., Politi, P., Durazzi, S.M., Muretto, P. & Albertini, F. (1990) Bone marrow transplantation in patients with thalassemia. New England Journal of Medicine, 322, 417421.
  • Lucarelli, G., Andreani, M. & Angelucci, E. (2002) The cure of thalassemia by bone marrow transplantation. Blood Reviews, 16, 8185.
  • Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., De Bont, E. & Dahl, N. (1999) Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. Human Genetics, 105, 496500.
  • Matsson, H., Davey, E.J., Draptchinskaia, N., Hamaguchi, I., Ooka, A., Leveen, P., Forsberg, E., Karlsson, S. & Dahl, N. (2004) Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Molecular and Cellular Biology, 24, 40324037.
  • Miyake, K., Utsugisawa, T., Flygare, J., Kiefer, T., Hamaguchi, I., Richter, J. & Karlsson, S. (2008) Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia. Stem Cells, 26, 323329.
  • Monteserin, M.C., Garcia Vela, J.A., Ona, F. & Lastra, A.M. (1993) Cyclosporin A for Diamond-Blackfan anemia: a new case. American Journal of Hematology, 42, 406407.
  • Mugishima, H., Gale, R.P., Rowlings, P.A., Horowitz, M.M., Marmont, A.M., McCann, S.R., Sobocinski, K.A. & Bortin, M.M. (1995) Bone marrow transplantation for Diamond-Blackfan anemia. Bone Marrow Transplantation, 15, 5558.
  • Niemeyer, C.M., Baumgarten, E., Holldack, J., Meier, I., Trenn, G., Jobke, A., Eckhardt, K.U., Reiter, A., Sauter, S. & Riehm, H. (1991) Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. Contributions to Nephrology, 88, 276280; discussion 281.
  • Nisbet-Brown, E., Olivieri, N.F., Giardina, P.J., Grady, R.W., Neufeld, E.J., Sechaud, R., Krebs-Brown, A.J., Anderson, J.R., Alberti, D., Sizer, K.C. & Nathan, D.G. (2003) Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia: a randomised, double-blind, placebo-controlled, dose-escalation trial. [see comment]. Lancet, 361, 15971602.
  • Ohene-Abuakwa, Y., Orfali, K.A., Marius, C. & Ball, S.E. (2005) Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect. Blood, 105, 838846.
  • Ohga, S., Mugishima, H., Ohara, A., Kojima, S., Fujisawa, K., Yagi, K., Higashigawa, M. & Tsukimoto, I. (2004) Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation. International Journal of Hematology, 79, 2230.
  • Olivieri, N.F. & Brittenham, G.M. (1997) Iron-chelating therapy and the treatment of thalassemia. [see comment] [erratum appears in Blood 1997 Apr 1;89(7):2621]. Blood, 89, 739761.
  • Olivieri, N.F., Feig, S.A., Valentino, L., Berriman, A.M., Shore, R. & Freedman, M.H. (1994) Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia. Blood, 83, 24442450.
  • Orfali, K.A., Ohene-Abuakwa, Y. & Ball, S.E. (2004) Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. British Journal Haematology, 125, 243252.
  • Orfali, R.F., Wynn, R.F., Stevens, R.F., Chopra, R. & Ball, S.E. (1999) Failure of red cell production following allogenic BMT for Diamond Blackfan anaemia (DBA) illustrates functional significance of high erythrocyte adenosine deaminase (eADA) activity in the donor. Blood, 94, 414a.
  • Ozsoylu, S. (1994) Oral megadose methylprednisolone for the treatment of Diamond-Blackfan anemia. Pediatric Hematology and Oncology, 11, 561562 and 567–568.
  • Parekh, S., Perez, A., Yang, X.Y. & Billett, H. (2005) Chronic parvovirus infection and G6PD deficiency masquerading as Diamond-Blackfan anemia. American Journal of Hematology, 79, 5457.
  • Perdahl, E.B., Naprstek, B.L., Wallace, W.C. & Lipton, J.M. (1994) Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood, 83, 645650.
  • Pospisilova, D., Cmejlova, J., Hak, J., Adam, T. & Cmejla, R. (2007) Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. Haematologica, 92, e66e67.
  • Proust, A., Da Costa, L., Rince, P., Landois, A., Tamary, H., Zaizov, R., Tchernia, G. & Delaunay, J. (2003) Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. The Hematology Journal, 4, 132136.
  • Ramenghi, U., Garelli, E., Valtolina, S., Campagnoli, M.F., Timeus, F., Crescenzio, N., Mair, M., Varotto, S., D’Avanzo, M., Nobili, B., Massolo, F., Mori, P.G., Locatelli, F., Gustavsson, P., Dahl, N. & Dianzani, I. (1999) Diamond-Blackfan anaemia in the Italian population. British Journal Haematology, 104, 841848.
  • Ramenghi, U., Campagnoli, M.F., Garelli, E., Carando, A., Brusco, A., Bagnara, G.P., Strippoli, P., Izzi, G.C., Brandalise, S., Riccardi, R. & Dianzani, I. (2000) Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. Blood Cells, Molecules, and Diseases, 26, 417422.
  • Ries, L.A.G., Eisner, M.P., Kosary, C.L., Hankey, B.F., Miller, B.A., Clegg, L. & Edwards, B.K. (eds). (2001) SEER Cancer Statistics Review, 1973–1998. National Cancer Institute. Bethesda, MD, http://seer.cancer.gov/Publications/CSR1973_1998/ .
  • Rogers, B.B., Bloom, S.L. & Buchanan, G.R. (1997) Autosomal dominantly inherited Diamond-Blackfan anemia resulting in nonimmune hydrops. Obstetrics and Gynecology, 89, 805807.
  • Scott, E.G., Haider, A. & Hord, J. (2004) Growth hormone therapy for short stature in Diamond Blackfan anemia. Pediatric Blood Cancer, 43, 542544.
  • Seip, M. & Zanussi, G.F. (1988) Cyclosporine in steroid-resistant Diamond-Blackfan anaemia. Acta Paediatrica Scandinavica, 77, 464466.
  • Singer, S.T. & Vichinsky, E.P. (1999) Deferoxamine treatment during pregnancy: is it harmful? American Journal of Hematology, 60, 2426.
  • Skordis, N., Christou, S., Koliou, M., Pavlides, N. & Angastiniotis, M. (1998) Fertility in female patients with thalassemia. Journal of Pediatric Endocrinology, 11(Suppl 3), 935943.
  • Splain, J. & Berman, B.W. (1992) Cyclosporin A treatment for Diamond-Blackfan anemia. American Journal of Hematology, 39, 208211.
  • St Pierre, T.G., Clark, P.R., Chua-anusorn, W., Fleming, A.J., Jeffrey, G.P., Olynyk, J.K., Pootrakul, P., Robins, E. & Lindeman, R. (2005) Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood, 105, 855861.
  • Stark, A.R., Carlo, W.A., Tyson, J.E., Papile, L.A., Wright, L.L., Shankaran, S., Donovan, E.F., Oh, W., Bauer, C.R., Saha, S., Poole, W.K., Stoll, B.J.. & National Institute of Child Health and Human Development Neonatal Research, N. (2001) Adverse effects of early dexamethasone in extremely-low-birth-weight infants. National Institute of Child Health and Human Development Neonatal Research Network. New England Journal of Medicine, 344, 95101.
  • Sumimoto, S., Kawai, M., Kasajima, Y. & Hamamoto, T. (1992) Intravenous gamma-globulin therapy in Diamond-Blackfan anemia. Acta Paediatrica Japonica, 34, 179180.
  • Tchernia, G., Morinet, F., Congard, B. & Croisille, L. (1993) Diamond Blackfan anaemia: apparent relapse due to B19 parvovirus. European Journal of Pediatrics, 152, 209210.
  • Totterman, T.H., Nisell, J., Killander, A., Gahrton, G. & Lonnqvist, B. (1984) Successful treatment of pure red-cell aplasia with cyclosporin. Lancet, 2, 693.
  • Tsai, P.H., Arkin, S. & Lipton, J.M. (1989) An intrinsic progenitor defect in Diamond-Blackfan anaemia. British Journal Haematology, 73, 112120.
  • Verlinsky, Y., Rechitsky, S., Sharapova, T., Morris, R., Taranissi, M. & Kuliev, A. (2004) Preimplantation HLA testing. JAMA, 291, 20792085.
  • Vlachos, A., Klein, G.W. & Lipton, J.M. (2001a) The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. Journal of Pediatric Hematology/Oncology, 23, 377382.
  • Vlachos, A., Federman, N., Reyes-Haley, C., Abramson, J. & Lipton, J.M. (2001b) Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplantation, 27, 381386.
  • Voskaridou, E., Douskou, M., Terpos, E., Papassotiriou, I., Stamoulakatou, A., Ourailidis, A., Loutradi, A. & Loukopoulos, D. (2004) Magnetic resonance imaging in the evaluation of iron overload in patients with beta thalassaemia and sickle cell disease. British Journal Haematology, 126, 736742.
  • Walsh, J.P. & Dayan, C.M. (2000) Role of biochemical assessment in management of corticosteroid withdrawal. Annals of Clinical Biochemistry, 37, 279288.
  • Ward, L., Tricco, A.C., Phuong, P., Cranney, A., Barrowman, N., Gaboury, I., Rauch, F., Tugwell, P. & Moher, D. (2007) Bisphosphonate therapy for children and adolescents with secondary osteoporosis. Cochrane Database of Systematic Reviews (Online), 17, CD00532422.
  • Williams, D.L., Mageed, A.S., Findley, H. & Ragab, A.H. (1987) Cyclosporine in the treatment of red cell aplasia. American Journal of Pediatric Hematology/Oncology, 9, 314316.
  • Willig, T.N., Niemeyer, C.M., Leblanc, T., Tiemann, C., Robert, A., Budde, J., Lambiliotte, A., Kohne, E., Souillet, G., Eber, S., Stephan, J.L., Girot, R., Bordigoni, P., Cornu, G., Blanche, S., Guillard, J.M., Mohandas, N. & Tchernia, G. (1999a) Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d’Hematologie et d’Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatric Research, 46, 553561.
  • Willig, T.N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J.L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N. & Tchernia, G. (1999b) Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood, 94, 42944306.
  • Wood, J.C., Tyszka, J.M., Carson, S., Nelson, M.D. & Coates, T.D. (2004) Myocardial iron loading in transfusion-dependent thalassemia and sickle cell disease. Blood, 103, 19341936.
  • Yaris, N., Erduran, E. & Cobanoglu, U. (2006) Hodgkin lymphoma in a child with Diamond Blackfan anemia. Journal of Pediatric Hematology/Oncology, 28, 234236.
  • Yeh, T.F., Lin, Y.J., Huang, C.C., Chen, Y.J., Lin, C.H., Lin, H.C., Hsieh, W.S. & Lien, Y.J. (1998) Early dexamethasone therapy in preterm infants: a follow-up study. [see comment]. Pediatrics, 101, E7.
  • Young, N.S. & Alter, B. (1994) Inherited Bone Marrow Failure Syndromes: Introduction. In: Aplastic Anemia Acquired and Inherited (ed. by N.Young & B.P.Alter), pp. 271274. WB Saunders Company, Philadelphia, PA.