Diamond-Blackfan Anemia in Japan: Clinical Outcomes of Prednisolone Therapy and Hematopoietic Stem Cell Transplantation

International Journal of Hematology

Volumn 79, Issue 1, 2004, Pages 22-30

  Ohga, Shouichi ^a   Mugishima, Hideo ^b,h   Ohara, Akira ^c   Kojima, Seiji ^d   Fujisawa, Kohji ^e   Yagi, Keiko ^f   Higashigawa, Masamune ^g   Tsukimoto, Ichiro ^c  

^a KYUSHU UNIVERSITY   (Japan)

^b NIHON UNIVERSITY   (Japan)

^c TOHO UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY   (Japan)

^e JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^g MIE UNIVERSITY   (Japan)

^h NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Bone marrow transplantation; Cord blood transplantation; Cyclosporin A; Diamond Blackfan anemia; Hematopoietic stem cell transplantation; Prednisolone

Indexed keywords

CYCLOSPORIN A; HEMOGLOBIN; PREDNISOLONE;

AGE DISTRIBUTION; ARTICLE; BLACKFAN DIAMOND ANEMIA; BLOOD TRANSFUSION; DISEASE ASSOCIATION; EPIDEMIOLOGICAL DATA; EXPERIENCE; FAMILIAL DISEASE; FEMALE; HEALTH SURVEY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOSIDEROSIS; HUMAN; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; OUTCOMES RESEARCH; PRESCHOOL CHILD; PROBABILITY; RETICULOCYTE COUNT; STEROID THERAPY; TREATMENT OUTCOME;

EID: 0842278683     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02983529     Document Type: Article

References (45)

1. Freedman MH. Diamond-Blackfan anaemia. Baillieres Best Pract Res Clin Haematol. 2000;13:391-406.
2. Willig TN, Gazda H, Sieff CA. Diamond-Blackfan anemia. Curr Opin Hematol. 2000;7:85-94.
3. Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G. Diamond-Blackfan anemia. Curr Opin Pediatr. 2001;13:10-15.
4. Halperin DS, Freedman MH. Diamond-Blackfan anemia: etiology, pathophysiology, and treatment. Am J Pediatr Hematol Oncol. 1989;11:380-394.
5. Krijanovski OI, Sieff CA. Diamond-Blackfan anemia. Hematol Oncol Clin North Am. 1997;11:1061-1077.
6. Nomura A, Ohga S, Asaka Y, et al. Pneumocystis carinii pneumonia in Diamond-Blackfan anemia: the necessity of chemoprophylaxis for young infant. Int J Pediatr Hematol Oncol. 2000;7:7-11.
7. Huh WW, Gill J, Sheth S, Buchanan GR. Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids. J Pediatr Hematol Oncol. 2002;24:410-412.
8. Alessandri AJ, Rogers PC, Wadsworth LD, Davis JH. Diamond-Blackfan anemia and cyclosporine therapy revisited. J Pediatr Hematol Oncol. 2000;22:176-179.
9. Buchanan GR. Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia: International Diamond-Blackfan Anemia Study Group. J Pediatr Hematol Oncol. 2001;23: 353-356.
10. El-Beshlawy A, Ibrahim IY, Rizk S, Eid K. Study of 22 Egyptian patients with Diamond-Blackfan anemia, corticosteroids, and cyclosporin therapy results. Pediatrics. 2002;110:e44.
11. Kawasaki H, Nakano T, Kohdera U, Kobayashi Y. The effect of thrombopoietin on erythroid progenitors in Diamond-Blackfan anemia. Int J Hematol. 2002;75:382-384.
12. van Dijken PJ, Verwijs W. Diamond-Blackfan anemia and malignancy: a case report and a review of the literature. Cancer. 1995;76:517-520.
13. Mugishima H, Gale RP, Rowlings PA, et al. Bone marrow transplantation for Diamond-Blackfan anemia. Bone Marrow Transplant. 1995;15:55-58.
14. Alter BP. Bone marrow transplant in Diamond-Blackfan anemia. Bone Marrow Transplant. 1998;21:965-966.
15. Giri N, Kang E, Tisdale JF, et al. Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia. Br J Haematol. 2000;108:167-175.
16. Draptchinskaia N, Gustavsson P, Andersson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21:169-175.
17. Willig TN, Draptchinskaia N, Dianzani I, et al. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood. 1999;94:4294-4306.
18. Hamagichi I, Ooka A, Brun A, Richter J, Dahl N, Karisson S. Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. Blood. 2002;100: 2724-2731.
19. Gazda H, Lipton JM, Willig TN, et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood. 2001;97:2145-2150.
20. Ohga S, Kanaya Y, Maki H, et al. Epstein-Barr virus-associated lymphoproliferative disease after a cord blood transplant for Diamond-Blackfan anemia. Bone Marrow Transplant. 2000;25:209-212.
21. Alter BP. Childhood red cell aplasia. Am J Pediatr Hematol Oncol. 1980;2:121-139.
22. Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol. 1996;94:645-653.
23. Janov AJ, Leong T, Nathan DG, Guinan EC. Diamond-Blackfan anemia: natural history and sequelae of treatment. Medicine (Baltimore). 1996;75:77-78.
24. Ramenghi U, Campagnoli MF, Garelli E, et al. Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. Blood Cells Mol Dis. 2000;26:417-422.
25. Willig TN, Niemeyer CM, Leblanc T, et al. 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). Pediatr Res. 1999;46:553-561.
26. Dianzani I, Garelli E, Ramenghi U. Diamond-Blackfan anaemia: an overview. Paediatr Drugs. 2000;2:345-355.
27. Vlachos A, Klein GW, Lipton JM. The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J Pediatr Hematol Oncol. 2001;23: 377-382.
28. Bresters D, Bruin MCA, van Dijken PJ. Congenitale, hypoplastische anemie in Nederland 1963-1989. Tijdschr Kindergeneeskd. 1991;59:203-210.
29. Ramenghi U, Garelli E, Valtolina S, et al. Diamond-Blackfan anaemia in the Italian population. Br J Haematol. 1999;104:841-848.
30. Imaizumi Y. A recent survey of consanguineous marriages in Japan. Clin Genet. 1986;30:230-233.
31. Bejaoui M, Fitouri Z, Sfar MT, Lakhoua R. Failure of immunosuppressive therapy and high-dose intravenous immunoglobulins in four transfusion-dependent, steroid-unresponsive Blackfan-Diamond anemia patients. Haematologica. 1993;78:38-39.
32. Bernini JC, Carrillo JM, Buchanan GR. High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. J Pediatr. 1995;127:654-659.
33. Vlachos A, Federman N, Reyes-Haley C, Abramson J, Lipton JM. Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplant. 2001;27:381-386.
34. Bonno M, Azuma E, Nakano T, et al. Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond-Blackfan anemia. Bone Marrow Transplant. 1997;19:83-85.
35. Vettenranta K, Saarinen UM. Cord blood stem cell transplantation for Diamond-Blackfan anemia. Bone Marrow Transplant. 1997;19: 507-508.
36. Barker JN, Martin PL, Coad JE, et al. Low incidence of Epstein-Barr virus-associated posttransplantation lymphoproliferative disorders in 272 unrelated-donor umbilical cord blood transplant recipients. Biol Blood Marrow Transplant. 2001;7:395-399.
37. Santucci MA, Bagnara GP, Strippoli P, et al. Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitors. Exp Hematol. 1999; 27:9-18.
38. Wynn RF, Grainger JD, Carr TF, Eden OB, Stevens RF, Will AM. Failure of allogeneic bone marrow transplantation to correct Diamond-Blackfan anaemia despite haemopoietic stem cell engraftment. Bone Marrow Transplant. 1999;24:803-805.
39. Lipton JM, Federman N, Khabbaze Y, et al. Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. J Pediatr Hematol Oncol. 2001; 23:39-44.
40. Haupt R, Dufour C, Dallorso S, Mori PG. Diamond-Blackfan anemia and malignancy: a case report and a review of the literature. Cancer. 1996;77:1961-1962.
41. Cmejla R, Blafkova J, Stopka T, Jelinek J, Petrtylova K, Pospisilova D. Ribosomal proteins S3a, S13, S16, and S24 are not mutated in patients with Diamond-Blackfan anemia. Blood. 2001;97:579-580.
42. Uechi T, Tanaka T, Kenmochi N. A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders. Genomics. 2001;72: 223-230.
43. Cmejlova J, Pospisilova D, Cmejla R. Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia. Haematologica. 2002;87:ELT30.
44. Kojima S, Horibe K, Inaba J, et al. Long-term outcome of acquired aplastic anaemia in children: comparison between immunosuppressive therapy and bone marrow transplantation. Br J Haematol. 2000;111:321-328.
45. Deeg HJ, Socie G, Schoch G, et al. Malignancies after marrow transplantation for aplastic anemia and Fanconi anemia: a joint Seattle and Paris analysis of results in 700 patients. Blood. 1996;87:386-392.