Skip to main content

Congenital Hypoplastic Anemia (Diamond — Blackfan Anemia)

  • Chapter
Aplastic Anemia and Other Bone Marrow Failure Syndromes
  • 151 Accesses

Abstract

Pure red blood cell (RBC) aplasia in children is a relatively common problem that usually represents a “pure erythroid abnormality” without other associated medical problems. This is in sharp contrast to the much rarer occurrences of RBC aplasia in adults, which often are associated with autoimmune disease, drugs, toxic exposures, malignancies, and, in a large fraction of patients, thymomas. The three major causes of pure red cell aplasia in children are Diamond — Blackfan anemia (DBA) transient erythroblastopenia of childhood (TEC), and acquired RBC hypoplasia associated with chronic hemolytic anemia. The major focus of this report is to summarize some of the current clinical problems related to Diamond — Blackfan anemia.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Josephs HW. Anaemia of infancy and early childhood. Medicine 1936; 15:307–451.

    Article  Google Scholar 

  2. Diamond LK, Blackfan KD. Hypoplastic anemia. Am J Dis Child 1938; 56:464–467.

    Google Scholar 

  3. Diamond LK, Wang WC, Alter BP. Congenital hypoplastic anemia. Adv Pediatr 1976; 22:349–378.

    PubMed  CAS  Google Scholar 

  4. Alter BP. Childhood red cell aplasia. Am J Pediatr Hematol Oncol 1980; 2:121–139.

    Google Scholar 

  5. Alter BP. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology, 3rd ed. Philadelphia, WB Saunders, 1987: pp. 159–241.

    Google Scholar 

  6. Balban EP, Buchanan GR, Graham M, Frenkel EP. Diamond-Blackfan syndrome in adult patients. Am J Med 1985; 78:533–538.

    Article  Google Scholar 

  7. Alter BP. Thumbs and anemias. Pediatrics 1978; 62:613–614.

    PubMed  CAS  Google Scholar 

  8. Jones B, Thompson H. Triphalangeal thumbs associated with hypoplastic anemia. Pediatrics 1973; 52:609–612.

    PubMed  CAS  Google Scholar 

  9. Murphy S, Lubin B. Triphalangeal thumbs and congenital erythroid hypoplasia: Report of a case with unusual features. J Pediatr 1972; 81:987–989.

    Article  PubMed  CAS  Google Scholar 

  10. Bloom GE, Warner S, Gerald PS, Diamond LK. Chromosome abnormalities in constitutional aplastic anemia. N Engl J Med 1966; 274:8–14.

    Article  PubMed  CAS  Google Scholar 

  11. Auerbach AD, Wolman SR. Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens. Nature (London) 1976; 261:494–496.

    Article  CAS  Google Scholar 

  12. Latt SA, Stetten G, Juergens LA, Buchanan GR, Gerald PS. Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi’s anemia. Proc Natl Acad Sei USA 1975; 72:4066–4070.

    Article  CAS  Google Scholar 

  13. Waterkotte GW, McElfresh AE. Congenital pure red cell hypoplasia in identical twins. Pediatrics 1974; 54:646–647.

    PubMed  CAS  Google Scholar 

  14. Burgert EO Jr, Kennedy RLJ, Pease GL. Congenital hypoplastic anemia. Pediatrics 1954; 13:218–226.

    PubMed  Google Scholar 

  15. Diamond LK, Allen DM, Magill FB. Congenital (erythroid) hypoplastic anemia: A 25-year study. Am J Dis Child 1961; 102:403–415.

    PubMed  CAS  Google Scholar 

  16. Starling KA, Fernbach DJ. Hypoplastic anemia. J Pediatr 1973; 82:735.

    Article  PubMed  CAS  Google Scholar 

  17. Altman AC, Gross S. Severe congenital hypoplastic anemia transmission from a healthy female to opposite sex step-siblings. Am J Pediatr Hematol/Oncol 1983; 5:99–101.

    CAS  Google Scholar 

  18. Forare SA. Pure red cell anemia in step siblings. Acta Paediatr 1963; 52:159–160.

    Article  PubMed  CAS  Google Scholar 

  19. Hunter RE, Hakami N. The occurrence of congenital hypoplastic anemia in half brothers. J Pediatr 1972; 81:346–348.

    Article  PubMed  CAS  Google Scholar 

  20. Mott MG, Apley J, Raper AB. Congenital (erythroid) hypoplastic anaemia: Modified expression in males. Arch Dis Child 1969; 44:757–760.

    Article  PubMed  CAS  Google Scholar 

  21. Falter ML, Robinson MG. Autosomal dominant inheritance and amino aciduria in Blackfan-Diamond anemia. J Med Genet 1972; 9:64.

    Article  PubMed  CAS  Google Scholar 

  22. Hamilton PJ, Dawson AA, Galloway WH. Congenital erythroid hypoplastic anaemia in mother and daughter. Arch Dis Child 1974; 49:71–73.

    Article  PubMed  CAS  Google Scholar 

  23. Lawton JWM, Aldrich JE, Turner TL. Congenital erythroid hypoplastic anaemia: Autosomal dominant transmission. Scand J Haematol 1974; 13:276–280.

    Article  PubMed  CAS  Google Scholar 

  24. Hammond D, Keighley G. The erythrocyte-stimulating factor in serum and urine in congenital hypoplastic anemia. Am J Dis Child 1960; 100:466–468.

    Google Scholar 

  25. 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.

    PubMed  CAS  Google Scholar 

  26. Freedman MH. ’Recurrent’ erythroblastopenia of childhood. Am J Dis Child 1983; 137:458–460.

    PubMed  CAS  Google Scholar 

  27. Freedman MH, Amato D, Saunders EF. Haem synthesis in the Diamond-Blackfan syndrome. Br J Haematol 1975; 31:515–520.

    Article  Google Scholar 

  28. Hoffman R, Zanjani ED, Vila J, Zalusky R, Lutton JD, Wasserman IR. Diamond-Blackfan syndrome: Lymphocyte-mediated suppression of erythropoiesis. Science 1976; 193:899–900.

    Article  PubMed  CAS  Google Scholar 

  29. Steinberg MH, Coleman MF, Pennebaker JB. Diamond-Blackfan syndrome: Evidence for T-cell mediated suppression of erythroid development and a serum blocking factor associated with remission. Br J Haematol 1979; 41:57–68.

    Article  PubMed  CAS  Google Scholar 

  30. Freedman MH, Saunders EF. Diamond-Blackfan syndrome: Evidence against cell-mediated erythropoietic suppression. Blood 1978; 51:1125–1128.

    PubMed  CAS  Google Scholar 

  31. Nathan DG, Hillman DG, Chess L, Alter BP, Clarke BJ, Breard J, Housman DE. Normal erythropoietic helper T-cells in congenital hypoplastic (Diamond-Blackfan) anemia. N Engl J Med 1978; 298:1049–1051.

    Article  PubMed  CAS  Google Scholar 

  32. Torok-Storb BJ, Sieff C, Storb R, Adamson J, Thomas ED. In vitro test for distinguishing possible immune-mediated aplastic anemia from transfusion-in-duced sensitization. Blood 1980; 55:211–214.

    PubMed  CAS  Google Scholar 

  33. Freedman MH, Amato D, Saunders EF. Erythroid colony growth in congenital hypoplastic anemia. J Clin Invest 1976; 57:673–677.

    Article  PubMed  CAS  Google Scholar 

  34. Nathan DG, Clarke BJ, Hillman DG, Alter BP. Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. J Clin Invest 1978; 61:489–498.

    Article  PubMed  CAS  Google Scholar 

  35. Lipton JM, Kudisch M, Gross R, Nathan DG. Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. Blood 1986; 67:962–968.

    PubMed  CAS  Google Scholar 

  36. Wang WC, Mentzer WC. Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. J Pediatr 1976; 88:784–789.

    Article  PubMed  CAS  Google Scholar 

  37. Glader BE, Backer K, Diamond LK. Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med 1983; 309:1486–1490.

    Article  PubMed  CAS  Google Scholar 

  38. Zielke HR, Ozand PT, Luddy RE, Zinkham WH, Schwartz AD, Sevdalian DA. Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. Br J Haematol 1979; 42:381–390.

    Article  PubMed  CAS  Google Scholar 

  39. Glader BE, Backer K. Comparative activity of erythrocyte adenosine deaminase and orotidine decarboxylase in Diamond-Blackfan anemia. Am. J. Hematol. 1986; 23:135–139.

    Article  PubMed  CAS  Google Scholar 

  40. Bhambhani K, Inoue S, Sarnaik SA, Merline J. Transient erythroblastopenia of childhood not associated with human parvovirus infection. Lancet 1986; 1:509.

    Article  PubMed  CAS  Google Scholar 

  41. Freedman MH, Saunders EF. Transient erythroblastopenia of childhood: Varied pathogenesis. Am J Hematol 1983; 14:247–254.

    Article  PubMed  CAS  Google Scholar 

  42. Koenig HM, Lightsey AL, Nelson DP, Diamond LK. Immune suppression of erythropoiesis in transient erythroblastopenia of childhood. Blood 1979; 54:742–746.

    PubMed  CAS  Google Scholar 

  43. Dessypris EN, Krantz SB, Roloff JS, Lukens JN. Mode of action of the IgG inhibitor of erythropoiesis in transient erythroblastopenia of childhood. Blood 1979; 54:742–746.

    Google Scholar 

  44. Link MP, Alter BP. Fetal-like erythropoiesis during recovery from transient erythroblastopenia of childhood. Pediatr Res 1981; 15:1036–1039.

    Article  PubMed  CAS  Google Scholar 

  45. Young N, Harrison M, Moore J, Mortimer P, Humphries RK. Direct demonstration of the human parvovirus in erythroid progenitor cells infected in vitro. J Clin Invest 1984; 74:2024–2032.

    Article  PubMed  CAS  Google Scholar 

  46. Gowda N, Rao SP, Cohen B, Miller ST, Clewley JP, Brown A. Human parvovirus infection in patients with sickle cell disease with and without hypoplastic crisis. J Pediatr 1987; 110:81–84.

    Article  PubMed  CAS  Google Scholar 

  47. Rao KRP, Patel AR, Anderson MD, Hodgson J, Jones SE, Pattison JR. Infection with parvovirus-like virus and aplastic crisis in chronic hemolytic anemia. Ann Intern Med 1983; 98:930–932.

    PubMed  CAS  Google Scholar 

  48. Saarinen UM, Chorba TL, Tattersall P, Young NS, Anderson LT, Palmer E, Coccia PF. Human parvovirus B19-induced epidemic acute red cell aplasia in patients with hereditary hemolytic anemia. Blood 1986; 67:1411–1417.

    PubMed  CAS  Google Scholar 

  49. Serjeant GR, Topley JM, Mason K, Serjeant BE, Pattison JR, Jones SE, Mohamed R. Outbreak of aplastic crises in sickle cell anemia associated with parvovirus-like agent. Lancet 1981; 2:595–597.

    Article  PubMed  CAS  Google Scholar 

  50. Kelleher JF, Luban NLC, Mortimer PP, Kamimura T. Human serum “parvo-virus”: A specific cause of aplastic crisis in children with hereditary spherocytosis. J. Pediatr 1983; 102:720–722.

    Article  PubMed  CAS  Google Scholar 

  51. Mortimer PP. Hypothesis: The aplastic crisis of hereditary spherocytosis is due to a single transmissible agent. J Clin Pathol 1983; 36:445–448.

    Article  PubMed  CAS  Google Scholar 

  52. Duncan J, Potter CG, Cappellini MD, Kurtz JB, Anderson MJ, Weatherall DJ. Aplastic crisis due to parvovirus infection in pyruvate kinase deficiency. Lancet 1983; 2:14–16.

    Article  PubMed  CAS  Google Scholar 

  53. Allen DM, Diamond LK. Congenital erythroid hypoplastic anemia: Cortisone treated. Am J Dis Child 1961; 102:416–423.

    PubMed  CAS  Google Scholar 

  54. Ozsoylu S. High-dose intravenous corticosteroid for a patient with Diamond Blackfan Syndrome refractory to classical prednisone treatment. Acta Haematol 1984; 71:207–210.

    Article  PubMed  CAS  Google Scholar 

  55. Steinherz PG, Canale VC, Miller DR. Hepatocellular carcinoma, transfusion induced hemochromatosis and congenital hypoplastic anemia (Diamond-Blackfan Syndrome). Am J Med 1976; 60:1032–1035.

    Article  PubMed  CAS  Google Scholar 

  56. Ragab A. Personal communication.

    Google Scholar 

  57. Shahidi N. Personal communication.

    Google Scholar 

  58. Marmont AM. Congenital hypoplastic anaemia refractory to corticosteroids but responding to cyclophosphamide and antilymphocytic globulin. Acta. Haematol 1978; 60:90.

    Article  PubMed  CAS  Google Scholar 

  59. Diamond LK. Personal communication.

    Google Scholar 

  60. August CS, King E, Githens JH, Mcintosh K, Humbert JR, Greensheer A, Johnson KB. Establishment of erythropoiesis following bone marrow trans-plantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan Syndrome). Blood 1976; 48:491–498.

    PubMed  CAS  Google Scholar 

  61. Iriondo A, Garijo J, Baro J, Conde E, Pastor JM, Sabanes A, Hermosa V, Sainz MD, Perez de la lastra L, Zubizarreta A. Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). Blood 1984; 64:348–351.

    Google Scholar 

  62. Lenarsky C, Weinberg K, Dukes P, Barak Y, Ortega J, Siegel S, William K, Lazerson J, Parkman R. Bone marrow transplantation for pure red cell aplasia (PRCA) Blood 1986; 68:274a (Abstract).

    Google Scholar 

  63. Sanders J. Personal communication.

    Google Scholar 

  64. Wasser JS, Yolken R, Miller DR, Diamond L. Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. Blood 1978; 51:991–995.

    PubMed  CAS  Google Scholar 

  65. Krishnan EU, Wegner K, Garg SK. Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. Pediatrics 1978; 61:898–901.

    PubMed  CAS  Google Scholar 

  66. D’Oelsnitz M, Vincent L, De Swarte M, Albertini M, Boutte P. A propos d’un cas de leucemie aigue lymphoblastique survenue apres guerison d’une maladie de Blackfan-Diamond. Arch Fr Pediatr 1975; 32:582 (Abstract).

    PubMed  Google Scholar 

  67. Basso G, Cocito MG, Rebuffi L, Donzelli F, Milanesi C, Zanesc L. Congenital hypoplastic anaemia developed in acute megakarioblastic leukaemia: A case report. Helv Paediatr Acta 1981; 36:267–270.

    PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1990 Springer-Verlag Inc.

About this chapter

Cite this chapter

Glader, B.E. (1990). Congenital Hypoplastic Anemia (Diamond — Blackfan Anemia). In: Shahidi, N.T. (eds) Aplastic Anemia and Other Bone Marrow Failure Syndromes. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-3254-4_15

Download citation

  • DOI: https://doi.org/10.1007/978-1-4612-3254-4_15

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4612-7935-8

  • Online ISBN: 978-1-4612-3254-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics