Seminars in Hematology
Volume 47, Issue 1 , Pages 37-45 , January 2010

Transplant Outcomes in Bone Marrow Failure Syndromes and Hemoglobinopathies

  • Margaret L. MacMillan

      Affiliations

    • Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, University of Minnesota Medical School, Minneapolis, MN
    • Corresponding Author InformationAddress correspondence to Margaret L. MacMillan, MD, Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, University of Minnesota Medical School, Mayo Mail Code 484, D-557 Mayo, Minneapolis, MN 55455
  • ,
  • Mark C. Walters

      Affiliations

    • Children's Hospital and Research Center, Oakland, CA
  • ,
  • Eliane Gluckman

      Affiliations

    • Hospital Saint Louis and University Paris VII, Paris, France

References 

  1. Maury S, Balere-Appert ML, Chir Z, Bioron JM, Galambrun C, Yakouben K, et al. Unrelated stem cell transplantation for severe acquired aplastic anemia: improved outcome in the era of high-resolution HLA matching between donor and recipient. Haematologica. 2007;92:589–596
  2. Alter B, Young N. The bone marrow failure syndromes. In:  Nathan DG,  Orkin SH,  Oski FA editor. Hematology of infancy and childhood. 5th ed.. Philadelphia: Saunders; 1998;p. 237–335
  3. Sieff CA, Nisbet-Brown E, Nathan DG. Congenital bone marrow failure syndromes. Br J Haematol. 2000;111:30–42
  4. Manji A, Fernandez C, Yanofsky R, et al. Characterization of hematological phenotype of the inherited marrow failure syndromes (Report form the Canadian inherited Marroe Failure Registry (CIMFR) [abstract]). Blood. 2003;102:500a
  5. Yoshimi A, Kojima S, Taniguchi S, et al. Unrelated cord blood transplantation for severe aplastic anemia. Biol Blood Marrow Transplant. 2008;14:1057–1063
  6. Chan KW, McDonald L, Lim D, Grimley MS, Grayson G, Wall DA. Unrelated cord blood transplantation in children with idiopathic severe aplastic anemia. Bone Marrow Transplant. 2008;42:589–595
  7. Gluckman E, Rocha V, Arcese W, et al. Factors associated with outcomes of unrelated cord blood transplant: guidelines for donor choice. Exp Hematol. 2004;32:397–407
  8. Wagner JE, MacMillan ML, Auerbach AD. Hematopoietic cell transplantation for Fanconi anemia. In:  Blume KG,  Forman SJ,  Appelbaum FR editor. Hematopietic cell transplantation. 3rd ed.. Malden, MA: Blackwell Sciences; 2004;p. 1483–1504
  9. Wagner JE, MacMillan ML, Auerbach AD. Hematopoietic cell transplantation for Fanconi's anemia. In:  Appelbaum FR,  Forman SJ,  Negrin RS,  Blume KG editor. Thomas' hematopoietic cell transplantation. 4th ed.. Oxford: Blackwell Publishing; 2008;p. 1178–1199
  10. Gluckman E, Devergie A, Schaison G, et al. Bone marrow transplantation in Fanconi anaemia. Br J Haematol. 1980;45:557–564
  11. Gluckman E, Devergie A, Dutreix J. Radiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation. Br J Haematol. 1983;54:431–440
  12. Guardiola P, Socie G, Li X, et al. Acute graft-versus-host disease in patients with Fanconi anemia or acquired aplastic anemia undergoing bone marrow transplantation from HLA-identical sibling donors: risk factors and influence on outcome. Blood. 2004;103:73–77
  13. Gluckman E, Auerbach AD, Horowitz MM, et al. Bone marrow transplantation for Fanconi anemia. Blood. 1995;86:2856–2862
  14. Gluckman E. Bone marrow transplantation in Fanconi's anemia. Stem Cells. 1993;11(Suppl 2):180–183
  15. Socie G, Gluckman E, Raynal B, et al. Bone marrow transplantation for Fanconi anemia using low-dose cyclophosphamide/thoracoabdominal irradiation as conditioning regimen: chimerism study by the polymerase chain reaction. Blood. 1993;82:2249–2256
  16. Dufour C, Rondelli R, Locatelli F, et al. Stem cell transplantation from HLA-matched related donor for Fanconi's anaemia: a retrospective review of the multicentric Italian experience on behalf of AIEOP-GITMO. Br J Haematol. 2001;112:796–805
  17. Farzin A, Davies SM, Smith FO, et al. Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience. Br J Haematol. 2007;136:633–640
  18. IBMTR/ABMTR Newsletter. Vol. 9; 2002.
  19. Aker M, Varadi G, Slavin S, Nagler A. Fludarabine-based protocol for human umbilical cord blood transplantation in children with Fanconi anemia. J Pediatr Hematol Oncol. 1999;21:237–239
  20. Tan PL, Wagner JE, Auerbach AD, Defor TE, Slungaard A, Macmillan ML. Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr Blood Cancer. 2006;46:630–636
  21. Bonfim CM, de Medeiros CR, Bitencourt MA, et al. HLA-matched related donor hematopoietic cell transplantation in 43 patients with Fanconi anemia conditioned with 60 mg/kg of cyclophosphamide. Biol Blood Marrow Transplant. 2007;13:1455–1460
  22. MacMillan ML, Auerbach AD, Davies SM, et al. Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial. Br J Haematol. 2000;109:121–129
  23. Chaudhury S, Auerbach AD, Kernan NA, et al. Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia. Br J Haematol. 2008;140:644–655
  24. Motwani J, Lawson SE, Darbyshire PJ. Successful HSCT using nonradiotherapy-based conditioning regimens and alternative donors in patients with Fanconi anaemia—experience in a single UK centre. Bone Marrow Transplant. 2005;36:405–410
  25. MacMillan ML, Blazar BR, DeFor TE, et al. Alternate donor HSCT for Fanconi anemia (FA): results of a total body irradiation (TBI) dose de-esclation study. Biol Blood Marrow Transplant. 2009;15:3–4
  26. Wagner JE, Eapen M, MacMillan ML, et al. Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia. Blood. 2007;109:2256–2262
  27. Gluckman E, Broxmeyer HA, Auerbach AD, et al. Hematopoietic reconstitution in a patient with Fanconi's anemia by means of umbilical-cord blood from an HLA-identical sibling. N Engl J Med. 1989;321:1174–1178
  28. Grewal SS, Kahn JP, MacMillan ML, Ramsay NK, Wagner JE. Successful hematopoietic stem cell transplantation for Fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood. 2004;103:1147–1151
  29. Gluckman E, Rocha V, Ionescu I, et al. Results of unrelated cord blood transplant in fanconi anemia patients: risk factor analysis for engraftment and survival. Biol Blood Marrow Transplant. 2007;13:1073–1082
  30. Wagner JE, Tolar J, Levran O, et al. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood. 2004;103:3226–3229
  31. Shaw PH, Haut PR, Olszewski M, Kletzel M. Hematopoietic stem-cell transplantation using unrelated cord-blood versus matched sibling marrow in pediatric bone marrow failure syndrome: one center's experience. Pediatr Transplant. 1999;3:315–321
  32. Tamary H, Yaniv I, Stein J, et al. A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation. Eur J Haematol. 2003;71:196–203
  33. Milledge J, Shaw PJ, Mansour A, et al. Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood. 2002;100:774–777
  34. Remacha AF, Badell I, Pujol-Moix N, et al. Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. Blood. 2002;100:356–358
  35. Iolascon A, Sabato V, de Mattia D, Locatelli F. Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). Bone Marrow Transplant. 2001;27:213–215
  36. Ghavamzadeh A, Alimoghadam K, Nasseri P, Jahani M, Khodabandeh A, Ghahremani G. Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation. Bone Marrow Transplant. 1999;23:299–301
  37. Rocha V, Devergie A, Socie G, et al. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol. 1998;103:243–248
  38. Bertrand Y, Muller SM, Casanova JL, Morgan G, Fischer A, Friedrich W. Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients. Bone Marrow Transplant. 2002;29:759–762
  39. Berthet F, Siegrist CA, Ozsahin H, et al. Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. Eur J Pediatr. 1996;155:286–290
  40. MacMillan ML, Davies SM, Wagner JE, Ramsay NK. Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopenia. Bone Marrow Transplant. 1998;21:735–737
  41. Lackner A, Basu O, Bierings M, et al. Haematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia. Br J Haematol. 2000;109:773–775
  42. Lonial S, Bilodeau PA, Langston AA, et al. Acquired amegakaryocytic thrombocytopenia treated with allogeneic BMT: a case report and review of the literature. Bone Marrow Transplant. 1999;24:1337–1341
  43. Ruggeri A, de Latour RP, Rocha V, et al. Double cord blood transplantation in patients with high risk bone marrow failure syndromes. Br J Haematol. 2008;143:404–408
  44. Johnson FL, Look AT, Gockerman J, Ruggiero MR, Dalla-Pozza L, Billings FT. Bone-marrow transplantation in a patient with sickle-cell anemia. N Engl J Med. 1984;311:780–783
  45. Bernaudin F, Socie G, Kuentz M, et al. Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood. 2007;110:2749–2756
  46. Bernaudin FSG, Vannier JP, et al. Report of the French experience concerning 26 children transplanted for severe sickle cell disease. Bone Marrow Transplant. 1997;19(Suppl 2):112–115
  47. Vermylen C, Cornu G, Ferster A, et al. Haematopoietic stem cell transplantation for sickle cell anaemia: the first 50 patients transplanted in Belgium. Bone Marrow Transplant. 1998;22:1–6
  48. Walters MC, Patience M, Leisenring W, et al. Bone marrow transplantation for sickle cell disease. N Engl J Med. 1996;335:369–376
  49. Walters MC, Storb R, Patience M, et al. Impact of bone marrow transplantation for symptomatic sickle cell disease: an interim report. Blood. 2000;95:1918–1924
  50. Iannone R, Casella JF, Fuchs EJ, et al. Results of minimally toxic nonmyeloablative transplantation in patients with sickle cell anemia and beta-thalassemia. Biol Blood Marrow Transplant. 2003;9:519–528
  51. Locatelli F, Rocha V, Reed W, et al. Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood. 2003;101:2137–2143
  52. Horan JT, Liesveld JL, Fenton P, Blumberg N, Walters MC. Hematopoietic stem cell transplantation for multiply transfused patients with sickle cell disease and thalassemia after low-dose total body irradiation, fludarabine, and rabit anti-thymocyte globulin. Bone Marrow Transplant. 2005;35:171–177
  53. Adamkiewicz TV, Boyer MW, Bray R, Haight A, Yeager AM. Identification of unrelated cord blood units for hematopoietic stem cell transplantation in children with sickle cell disease. J Pediatr Hematol Oncol. 2006;28:29–32
  54. Adamkiewicz TV, Mehta PS, Boyer MW, et al. Transplantation of unrelated placental blood cells in children with high-risk sickle cell disease. Bone Marrow Transplant. 2004;34:405–411
  55. Krishnamurti L, Abel S, Maiers M, Flesch S. Availability of unrelated donors for hematopoietic stem cell transplantation for hemoglobinopathies. Bone Marrow Transplant. 2003;31:547–550
  56. Walters MC, Patience M, Leisenring W, et al. Barriers to bone marrow transplantation for sickle cell anemia. Biol Blood Marrow Transplant. 1996;2:100–104
  57. Bernaudin F, Souillet G, Vannier JP, et al. Bone marrow transplantation (BMT) in 14 children with severe sickle cell disease (SCD): the French experience. GEGMO. Bone Marrow Transplant. 1993;12(Suppl 1):118–121
  58. Gluckman E, Rocha V, Boyer-Chammard A, et al. Outcome of cord-blood transplantation from related and unrelated donors (Eurocord Transplant Group and the European Blood and Marrow Transplantation Group). N Engl J Med. 1997;337:373–381
  59. Pinto FO, Roberts I. Cord blood stem cell transplantation for haemoglobinopathies. Br J Haematol. 2008;141:309–324
  60. Rubinstein P, Carrier C, Scaradavou A, et al. Outcomes among 562 recipients of placental-blood transplants from unrelated donors. N Engl J Med. 1998;339:1565–1577
  61. Kabara N, Locatelli F, Rocha V, Ghvamzadeh A, Bernaudin F, Li C-K, et al. A multicentric comparative analysis of outcomes of HLA-identical related cord blood and bone marrow transplantation in patients with beta-thalassemia or sickle cell disease. Biol Blood Marrow Transplant. 2008;14:3–4
  62. Lisini D, Zecca M, Giorgiani G, et al. Donor/recipient mixed chimerism does not predict graft failure in children with beta-thalassemia given an allogeneic cord blood transplant from an HLA-identical sibling. Haematologica. 2008;93:1859–1867
  63. Soni S, Cowan MJ, Edwards S, Walters MC. Co-infusion of matched sibling donor cord blood and bone marrow as stem cell source for allogeneic stem cell transplantation in pediatric non-malignant disorders. Biol Blood Marrow Transplant. 2008;14:75–76
  64. Jaing TH, Hung IJ, Yang CP, Chen SH, Sun CF, Chow R. Rapid and complete donor chimerism after unrelated mismatched cord blood transplantation in 5 children with beta-thalassemia major. Biol Blood Marrow Transplant. 2005;11:349–353
  65. Vanichsetakul P, Wacharaprechanont T, O-Charoen R, Sekarn P, Kupatawintu P. Umbilical cord blood transplantation in children with beta-thalassemia diseases. J Med Assoc Thailand. 2004;87:S62–S67
  66. Jaing TH, Yang CP, Hung IJ, Chen SH, Sun CF, Chow R. Transplantation of unrelated donor umbilical cord blood utilizing double-unit grafts for five teenagers with transfusion-dependent thalassemia. Bone Marrow Transplant. 2007;40:307–311
  67. Jaing TH, Hung IJ, Yang CP, Tsai MH, Lee WI, Sun CF. Second transplant with two unrelated cord blood units for early graft failure after cord blood transplantation for thalassemia. Pediatr Transplant. 2009;13:766–768
  68. Jaing T-H, Tan P, Rosenthal J, Chan LL, Lin H-P, Tan P-L, et al. Unrelated cord blood transplantation (UCBT) for transfusion-dependent thalassemia—a CIBMTR audited retrospective analysis of 51 consecutive patients. Biol Blood Marrow Transplant. 2008;14:6–7
  69. Jaing T-H, Wang B, Gjertson D, Petz L, Chow R. Unrelated cord blood transplantation (UCBT) of 30 consecutive patients with transfusion-dependent thalassemia from a single center. Biol Blood Marrow Transplant. 2009;15:24–25

PII: S0037-1963(09)00135-8

doi: 10.1053/j.seminhematol.2009.10.004

Seminars in Hematology
Volume 47, Issue 1 , Pages 37-45 , January 2010