Seminars in Hematology
Volume 43, Issue 3 , Pages 167-177 , July 2006

Diamond Blackfan Anemia: New Paradigms for a “Not So Pure” Inherited Red Cell Aplasia

  • Jeffrey M. Lipton

      Affiliations

    • Corresponding Author InformationAddress correspondence to Jeffrey M. Lipton, MD, PhD, Schneider Children’s Hospital, 269-01 76th Ave, New Hyde Park, NY 11040.

References 

  1. Young NS , Alter BP . In: Inherited bone marrow failure syndromes (Introduction, in Aplastic Anemia Acquired and Inherited) . Philadelphia, PA: Saunders; 1994;p. 271–274
  2. Gripp KW , McDonald-McGinn DM , La Rossa D , McGain D , Federman N , Vlachos A , et al.  Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia . Am J Med Genet . 2001;101:268–274
  3. Lipton JM , Federman N , Khabbaze Y , Schwartz CL , Hilliard LM , Clark JI , 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
  4. Josephs HW . Anemia of infancy and early childhood . Medicine . 1936;15:307–451
  5. Diamond LK , Blackfan KD . Hypoplastic anemia . Am J Dis Child . 1938;56:464–467
  6. Diamond LK , Wang WC , Alter BP . Congenital hypoplastic anemia . Adv Pediatr . 1976;22:349–378
  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. Gustavsson P , Willig TN , van Haeringen A , Tchernia G , Dianzani I , Donner M , et al.  Diamond-Blackfan anaemia (Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb) . Nat Genet . 1997;16:368–371
  9. Draptchinskaia N , Gustavsson P , Andersson B , Pettersson M , Willig TN , Dianzani I , et al.  The ribosomal protein S19 gene is mutated in Diamond-Blackfan anemia . Nat Genet . 1999;21:169–175
  10. Orfali KA , Ohene-Abuakwa Y , Ball SE . Diamond Blackfan anaemia in the UK (Clinical and genetic heterogeneity) . Br J Haematol . 2004;125:243–252
  11. Willig TN , Niemeyer CM , Leblanc T , Tiemann C , Robert A , Budde J , et al.  Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients . Pediatr Res . 1999;46:553–561
  12. Campagnoli MF , Garelli E , Quarello P , Carando P , Varotto S , Nobili B , 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
  13. Ohga S , Mugishima H , Ohara A , Kojima S , Fujisawa K , Yagi K , et al.  Diamond-Blackfan anemia in Japan (Clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation) . Int J Hematol . 2004;79:22–30
  14. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al: Diagnosing and treating Diamond Blackfan anemia: Results of an international consensus conference. (in preparation)
  15. Hoffman R , Zanjani ED , Vila J , Zalusky R , Lutton JD , Wasserman LR . Diamond-Blackfan syndrome (Lymphocyte-mediated suppression of erythropoiesis) . Science . 1976;193:899–900
  16. Ershler WB , Ross J , Finlay JL , Shahidi NT . Bone-marrow microenvironment defect in congenital hypoplastic anemia . N Engl J Med . 1980;302:1321–1327
  17. Ortega JA , Shore NA , Dukes PP , Hammond D . Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia . Blood . 1975;45:83–89
  18. Sawada K-I , Koyanagawa Y , Sakurama S , Nakagawa S , Konno T . Diamond-Blackfan syndrome (A possible role of cellular factors for erythropoietic suppression) . Scand J Haematol . 1985;35:158–165
  19. Lipton JM , Kudisch M , Gross R , Nathan DG . Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia . Blood . 1986;67:962–968
  20. Tsai P , Arkin S , Lipton JM . An intrinsic progenitor defect in Diamond-Blackfan anemia . Br J Haematol . 1989;73:112–120
  21. Perdahl EB , Naprstek BL , Wallace WC , Lipton JM . Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis . Blood . 1994;83:645–650
  22. Ohene-Abuakwa Y , Orfali KA , Marius C , Ball SE . Two-phase culture in Diamond Blackfan anemia (Localization of erythroid defect) . Blood . 2005;105:838–846
  23. Cmejla R , Blafkova J , Stopka T , et al.  Ribosomal protein S19 gene mutations in patients with Diamond-Blackfan anemia and identification of ribosomal protein S19 pseudogenes . Blood Cells Mol Dis . 2000;26:124–132
  24. Leger-Silvistre I , Caffrey JM , Dawaliby  , et al.  Specific role for yeast homologs of Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis . J Biol Chem . 2005;280:38177–38185
  25. Yamamoto T . Molecular mechanism of monocyte predominant infiltration in chronic inflammation (Mediation by a novel monocyte chemotactic factor, S19 ribosomal protein dimer) . Pathol Int . 2000;50:863–871
  26. Maeda N , Toku S , Kenmochi N , Tanaka T . A novel nucleolar protein interacts with ribosomal protein S19 . Biochem Biophys Res Commun . 2006;339:41–46
  27. Soulet F , Saati TA , Roga S , Amalric F , Bouche G . Fibroblast growth factor-2 interacts with free ribosomal protein S19 . Biochem Biophys Res Commun . 2001;289:591–596
  28. Chiocchetti A , Gibello L , Carando A , Aspesi A , Secco P , Garelli E , et al.  Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein . Haematologica . 2005;90:1453–1462
  29. Gazda HT , Zhong R , Long L , Niewiadomska E , Lipton JM , Plosynksa A , et al.  RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations . Br J Haematol . 2004;127:105–113
  30. Flygare J , Kiefer T , Miyake K , Utsugisawa T , Hamaguchi I , DaCosta L , et al.  Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia . Blood . 2005;105:4627–4634
  31. Ebert BL , Lee MM , Pretz JL , Subramanian A , Mak R , Golub TR , et al.  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 . 2005;105:4620–4626
  32. Çeliker MY , Arkin S , Çeliker I , Atsidaftos E , Lipton JM , et al.  The role RPS-19 in differentiation and survival of UT-7/Epo cells (A potential in vitro model for erythropoiesis) . J Pediatr Hematol Oncol . 2004;42:513; (abstr)
  33. Hamaguchi I , Ooka A , Brun A , Richter J , Dahl N , Karlsson S . Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia . Blood . 2002;100:2724–2731
  34. Mattson H, Davey EJ, Fröjmark AS, Miyake K, Utsugisawa T, Flygare J, et al: Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. Blood Cells Mol Dis (in press)
  35. Ellis SR , Massey AT . Diamond Blackfan anemia (A paradigm for a ribosome-based disease) . Med Hypotheses . 2006;66:643–648
  36. Liu JM, Ellis SR: Ribosomes and marrow failure: Coincidental association or molecular paradigm. Blood First Edition Paper, January 28, 2006. DOI 10.1182/blood-2005-12-4831
  37. Teber OA , Gillessen-Kaesbach G , Fischer S , Böhringer S , Albrecht B , Albert A , et al.  Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation . Eur J Hum Genet . 2004;12:879–890
  38. Fazen LE , Elmore J , Nadler HL . Mandibulo-facial dysostosis (Treacher-Collins syndrome) . Am J Dis Child . 1967;113:405–410
  39. Lipton JM , Alter BP . Diamond Blackfan anemia . In:  Feig SA ,  Freedman MH editor. Clinical Disorders and Experimental Models of Erythropoietic Failure . Boca Raton, FL: CRC Press; 1993;p. 39–67
  40. Lipton JM, Atsidaftos E, Zyskind I, Vlachos A: Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer (in press)
  41. Wise CA , Chiang LC , Paznekas WA , Sharma M , Musy MM , Ashley JA , et al.  TCOF1 gene encodes a putative phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region . Proc Natl Acad Sci U S A . 1997;94:3110–3115
  42. Vlachos A , Klein GW , Avarello JT , Rivera RD , Atsidaftos E , Gripp KW , et al.  Diamond Blackfan anemia (DBA) and associated orofacial clefts (OFC) (A Diamond Blackfan Anemia Registry (DBAR) analysis) . J Pediatr Hematol Oncol . 2002;24:1426; (abstr)
  43. So RB , Gonzales B , Henning D , Dixon J , Dixon MJ , Valdez BC . Another face of the Treacher Collins syndrome (TCOF1) gene (Identification of additional exons) . Gene . 2004;328:49–57
  44. Dixon J , Edwards SJ , Anderson I , Brass A , Scambler PJ , Dixon MJ . Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene . Genome Res . 1997;7:223–234
  45. Dixon MJ . Treacher Collins syndrome . Hum Mol Genet . 1997;5:1391–1396
  46. Valdez BC , Henning D , So RB , Dixon J , Dixon MJ . The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor . Proc Natl Acad Sci U S A . 2004;101:10709–10714
  47. Gonzales B , Henning D , So RB , Dixon J , Valdez BC . The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation . Hum Mol Genet . 2005;14:2035–2043
  48. Dixon J , Brakebush C , Fässler R , Dixon MJ . Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial, Treacher Collins syndrome . Hum Mol Genet . 2000;9:1473–1480
  49. D’Andrea AD , Grompe M . The Fanconi anaemia/BRCA pathway . Nat Rev Cancer . 2003;3:23–34
  50. Marrone A , Dokal I . Dyskeratosis congenita (Molecular insights into telomerase function, ageing and cancer) . Expert Rev Mol Med . 2004;6:1–23
  51. Gazda H , Lipton JM , Willig TN , Ball S , Niemeyer CM , Tchernia G , 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
  52. Balaban EP , Buchanan GR , Graham M , Frenkel EP . Diamond-Blackfan syndrome in adult patients . Am J Med . 1985;78:533–538
  53. Dessypris EN , Kranz SB , Roloff JS , Lukens JN . Mode of action of the IgG inhibitor of erythropoiesis in transient erythroblastopenia of childhood . Blood . 1982;59:114–123
  54. Glader BE , Backer K , Diamond LK . Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia . N Engl J Med . 1983;309:1486–1490
  55. Glader BE . Personal communication . 2006; January
  56. Cathie IAB . Erythrogenesis imperfecta . Arch Dis . 1950;25:313–324
  57. Aase JM , Smith D . Congenital anemia and triphalangeal thumbs (A new syndrome) . J Pediatr . 1969;74:471–472
  58. Alter BP . Thumbs and anemia . Pediatr . 1978;62:613–614
  59. Hasan R , Inoue S . Diamond-Blackfan anemia associated with Treacher-Collins syndrome . J Pediatr Hematol Oncol . 1993;10:261–265
  60. Zyskind I , Atsidaftos E , Vlachos A , Lipton JM . Search for macrocytosis as a marker of an inherited bone marrow failure syndrome (IBMFS) in congenital heart disease and cleft palate (A provocative first look) . J Pediatr Hematol Oncol . 2004;42:542; (abstr)
  61. Janov AJ , Leong T , Nathan DG , Guinan EC . Diamond-Blackfan anemia. Natural history and sequelae of treatment . Medicine (Baltimore) . 1996;75:77–78
  62. Rosenberg PS , Greene MH , Alter BP . Cancer incidence in persons with Fanconi anemia . Blood . 2003;101:822–826
  63. Rosenberg PS , Alter BP , Bolyard AA , Bonilla MA , Boxer LA , Cham B , et al.  The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy . Blood . 2005;106:669; (abstr)
  64. Lensch MW , Rathbun RK , Olson SB , Jones GR , Bagby GC . Selective pressure as an essential force in molecular evolution of myeloid leukemia clones (A view from the window of Fanconi anemia) . Leukemia . 1999;13:1784–1789
  65. Lipton JM . Inherited childhood bone marrow failure syndromes. From the clinic to the laboratory and back again . In:  Fischer EP ,  Klose S editor. The Diagnostic Challenge. Knowledge for Health . Munchen, Germany: Piper; 1998;p. 39–87
  66. Amsterdam A , Sadler KC , Lai K , Farrington S , Bronson RT , Lees JA , et al.  Many ribosomal protein genes are cancer genes in zebrafish . Plos Biol . 2004;2:690–698
  67. Gasser C . Aplastische anämie (cronische erythroblastophthise) und cortison . Schhhweiz Med Wochenschr . 1951;81:1241–1242
  68. Olivieri NF , Brittenham GM . Iron-chelating therapy and the treatment of thalassemia . Blood . 1997;89:739–761
  69. Nisbet-Brown E , Olivieri NF , Giardina PJ , Grady RW , Neufeld EJ , Sechaud R , et al.  Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia (A randomised, double-blind, placebo-controlled, dose-escalation trial) . Lancet . 2003;361:1597–1602
  70. Alter BP , Kumar M , Lockhart LL , Sprinz PG , Rowe TF . Pregnancy in bone marrow failure syndromes (Diamond-Blackfan anaemia and Shwachman-Diamond syndrome) . Br J Haematol . 1999;107:49–54
  71. 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
  72. Vlachos A , Atsidaftos E , Lipton JM . Matched related vs alternative donor stem cell transplantation (SCT) for Diamond Blackfan anemia (A report of the Diamond Blackfan Anemia Registry) . Blood . 2005;106:2063; (abstr)
  73. Roy V , Perez WS , Eapen M , Marsh JC , Pasquini M , Mustafa MM , et al.  Bone marrow transplantation for Diamond-Blackfan anemia . Biol Blood Marrow Transplant . 2005;11:600–608
  74. Alter BP . Bone marrow transplant in Diamond-Blackfan anemia . Bone Marrow Transplant . 1998;21:965–966 (letter)
  75. Kuliev A , Rechitsky S , Tur-Kaspa I , Verlinsky Y . Preimplantation genetics. Improving access to stem cell therapy . Ann NY Acad Sci . 2005;1054:223–227
  76. Wagner JE , Kahn JP , Wolf SM , Lipton JM . Preimplantation testing to produce an HLA-matched donor infant . JAMA . 2004;292:803–804 (letter)
  77. Orfali RF , Wynn RF , Stevens R , Chopra R , Ball SE . 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 . 1999;94:41832; (abstr)
  78. Wynn RF , Grainger JD , Carr TF , Eden OB , Stevens RF , Will AM . Failure of allogeneic bone marrow transplantation to correct Diamond-Blackfan anemia despite haemopoietic stem cell engraftment . Bone Marrow Transplant . 1999;24:803–805
  79. Matsson H , Klar J , Draptchinskaia N , Gustavsson P , Carlsson B , Bowers D , et al.  Truncating ribosomal protein S19 and variable clinical expression in Diamond-Blackfan anemia . Hum Genet . 1999;105:496–500
  80. Ramenghi U , Campagnoli MF , Garelli E , Carando A , Brusco A , Bagnara GP , et al.  Diamond-Blackfan anemia (Report of seven mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population) . Blood Cells Mol Dis . 2000;26:417–422
  81. Proust A , Da Costa L , Rince P , Landois A , Tamary H , Zaizov R , et al.  SHIP Working Group on DBA (Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene) . Hematol J . 2003;4:132–136
  82. Orfali KA , Ohene-Abuakwa Y , Ball SE . Diamond Blackfan anemia in the UK (Clinical and genetic heterogeneity) . Br J Haematol . 2004;125:243–252

 Supported by grants from the Daniella Maria Arturi Foundation, Diamond Blackfan Anemia Foundation, Pediatric Cancer Foundation, National Institutes of Health RO1 HL 079571, and the Feinstein Institute for Medical Research at the NSLIJ General Clinical Research Center MO1 RR018535.

PII: S0037-1963(06)00076-X

doi: 10.1053/j.seminhematol.2006.04.002

Seminars in Hematology
Volume 43, Issue 3 , Pages 167-177 , July 2006