Biology of Blood and Marrow Transplantation
Volume 11, Issue 8 , Pages 600-608 , August 2005

Bone Marrow Transplantation for Diamond-Blackfan Anemia

  • Vivek Roy

      Affiliations

    • Mayo Clinic Jacksonville, Jacksonville, Florida
    • ,
  • Waleska S. Pérez

      Affiliations

    • International Bone Marrow Transplant Registry, Health Policy Institute, Medical College of Wisconsin, Milwaukee, Wisconsin
    • ,
  • Mary Eapen

      Affiliations

    • International Bone Marrow Transplant Registry, Health Policy Institute, Medical College of Wisconsin, Milwaukee, Wisconsin
    • ,
  • Judith C.W. Marsh

      Affiliations

    • St. George’s Hospital Medical School, London, United Kingdom
    • ,
  • Marcelo Pasquini

      Affiliations

    • International Bone Marrow Transplant Registry, Health Policy Institute, Medical College of Wisconsin, Milwaukee, Wisconsin
    • ,
  • Ricardo Pasquini

      Affiliations

    • Federal University of Parana, Curitiba, Parana, Brazil
    • ,
  • Mahmoud M. Mustafa

      Affiliations

    • King Hussein Cancer Center, Amman, Jordan
    • ,
  • Christopher N. Bredeson

      Affiliations

    • International Bone Marrow Transplant Registry, Health Policy Institute, Medical College of Wisconsin, Milwaukee, Wisconsin
    • Corresponding Author InformationCorrespondence and reprint requests: Christopher N. Bredeson, MD, MSc, Center for International Blood and Marrow Transplant Research, Medical College of Wisconsin, 8701 Watertown Plank Rd., Milwaukee, WI 53226
    • ,
  • Non-Malignant Marrow Disorders Working Committee of the International Bone Marrow Transplant Registry

      Affiliations

    • Other members of the committee are listed in Appendix 1.

Received 18 November 2004 ,Accepted 10 May 2005.

References 

  1. Da Costa L , Willig TN , Fixler J , Mohandas N , Tchernia G . Diamond-Blackfan anemia . Curr Opin Pediatr . 2001;13:10–15
  2. Perdahl EB , Naprstek BL , Wallace WC , Lipton JM . Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis . Blood . 1994;83:645–650
  3. 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
  4. Gazda HT , Zhong R , Long L , et al.   RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations . Br J Haematol . 2004;127:105–113
  5. 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
  6. Campagnoli MF , Garelli E , Quarello P , et al.   Molecular basis of Diamond-Blackfan anemia (new findings from the Italian registry and a review of the literature) . Haematologica . 2004;89:480–489
  7. 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
  8. 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
  9. Halperin DS , Freedman MH . Diamond-Blackfan anemia (etiology, pathophysiology, and treatment) . Am J Pediatr Hematol Oncol . 1989;1:380–394
  10. Sumimoto S , Kawai M , Kasajima Y , et al.   Intravenous gamma-globulin therapy in Diamond-Blackfan anemia . Acta Paediatr . 1992;34:179–180
  11. Seip M , Zanussi GF . Cyclosporine in steroid-resistant Diamond-Blackfan anaemia . Acta Paediatr Scand . 1988;77:464–466
  12. Gillio AP , Faulkner LB , Alter BP , et al.   Successful treatment of Diamond-Blackfan anemia with interleukin 3 . Stem Cells . 1993;11(suppl 2):123–130
  13. Olivieri NF , Feig SA , Valentino L , Berriman AM , Shore R , Freedman MH . Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia . Blood . 1994;83:2444–2450
  14. Abkowitz JL , Schaison G , Boulad F , et al.   Response of Diamond-Blackfan anemia to metoclopramide (evidence for a role for prolactin in erythropoiesis) . Blood . 2002;100:2687–2691
  15. August CS , King E , Githens JH , et al.   Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome) . Blood . 1976;48:491–498
  16. Iriondo A , Garijo J , Baro J , et al.   Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome) . Blood . 1984;64:348–351
  17. Lenarsky C , Weinberg K , Guinan E , et al.   Bone marrow transplantation for constitutional pure red cell aplasia . Blood . 1988;71:226–229
  18. Greinix HT , Storb R , Sanders JE , et al.   Long-term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond-Blackfan syndrome) . Br J Haematol . 1993;84:515–520
  19. Mugishima H , Gale RP , Rowlings PA , et al.   Bone marrow transplant for Diamond-Blackfan anemia . Bone Marrow Transplant . 1995;15:55–58
  20. Alter BP . Bone marrow transplant in Diamond-Blackfan anemia . Bone Marrow Transplant . 1998;21:965–966
  21. 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
  22. 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
  23. Glucksberg H , Storb R , Fefer A , et al.   Clinical manifestations of graft-versus-host disease in human recipients of marrow from HLA-matched sibling donors . Transplantation . 1974;18:295–304
  24. Atkinson K , Horowitz MM , Gale RP , Lee MB , Rimm AA , Bortin MM . Consensus among bone marrow transplanters for diagnosis, grading and treatment of chronic graft-versus-host disease. Committee of the International Bone Marrow Transplant Registry . Bone Marrow Transplant . 1989;4:247–254
  25. Gooley TA , Leisenring W , Crowley J , Storer BE . Estimation of failure probabilities in the presence of competing risks (new representations of old estimators) . Stat Med . 1999;18:695–706
  26. Kaplan EL , Meier P . Nonparametric estimation from incomplete observations . J Am Stat Assoc . 1958;53:457–481
  27. Klein JP , Moeschberger ML . Survival Analysis (Techniques for Censored and Truncated Data) . New York: Springer; 1997;
  28. Walters MC . Bone marrow transplantation for sickle cell disease (where do we go from here?) . J Pediatr Hematol Oncol . 1999;21:467–474
  29. Lucarelli G , Galimberti M , Polchi P , et al.   Bone marrow transplantation in patients with thalassemia . N Engl J Med . 1990;322:417–421
  30. Willig TN , Pérignon JL , Gustavsson P , et al.   High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Societe d’Immunologie Pediatrique (SHIP) . Blood . 1998;92:4422–4427
  31. Orfali KA , Ohene-Abuakwa Y , Ball SE . Diamond Blackfan anaemia in the UK (clinical and genetic heterogeneity) . Br J Haematol . 2004;25:243–252
  32. Gripp KW , McDonald-McGinn DM , La Rossa D , et al.   Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia . Am J Med Genet . 2001;101:268–274
  33. Orfali KA , Wynn RF , Stevens RF , Chopra R , Ball SE . Failure of red cell production following allogeneic BMT for Diamond Blackfan Anaemia (DBA) illustrates functional significance of high erythrocyte adenosine deaminase (eADA) activity in the donor [abstract] . Blood . 1999;94:414a
  34. Ostronoff M , Florencio R , Campos G , et al.   Successful nonmyeloablative bone marrow transplantation in corticosteroid-resistant infant with Diamond-Blackfan anemia . Bone Marrow Transplant . 2004;34:371–372
  35. Gomez-Almaguer D , Ruiz-Arguelles GJ , Tarin-Arzaga LC , et al.   Reduced-intensity stem cell transplantation in children and adolescents (the Mexican experience) . Biol Blood Marrow Transplant . 2003;9:157–161

PII: S1083-8791(05)00291-0

doi: 10.1016/j.bbmt.2005.05.005

Biology of Blood and Marrow Transplantation
Volume 11, Issue 8 , Pages 600-608 , August 2005

Article Tools

* Image Usage & Resolution