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Dianzani I, Garelli E, Ramenghi U. Diamond-Blackfan Anaemia: an overview. Paediatr Drugs. 2000;2(5):345-55doi: 10.2165/00128072-200002050-00002.
Dianzani, I., Garelli, E., & Ramenghi, U. (2000). Diamond-Blackfan Anaemia: an overview. Paediatric drugs, 2(5), 345-55. https://doi.org/10.2165/00128072-200002050-00002
Dianzani, I, et al. "Diamond-Blackfan Anaemia: an overview." Paediatric drugs vol. 2,5 (2000): 345-55. doi: https://doi.org/10.2165/00128072-200002050-00002
Dianzani I, Garelli E, Ramenghi U. Diamond-Blackfan Anaemia: an overview. Paediatr Drugs. 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. PMID: 11022796.
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Paediatr Drugs. 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002.

Diamond-Blackfan Anaemia: an overview.

Paediatric drugs

I Dianzani, E Garelli, U Ramenghi

Affiliations

  1. Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy. [email protected]

PMID: 11022796 DOI: 10.2165/00128072-200002050-00002

Abstract

Diamond Blackfan Anaemia (DBA) is a congenital disease characterised by defective erythroid progenitor maturation. It is usually diagnosed during the first year of life. The main clinical sign is profound isolated normochromic or macrocytic anaemia, with normal numbers and function of the other haemopoietic cells. Reticulocyte counts in patients with DBA are very low. Bone marrow reflects the defective erythropoiesis, showing a very low number of erythropoietic precursors and a reduction of erythroid burst-forming unit progenitor cells. The proliferation and differentiation of the other lineages are normal. More than one-third of patients have malformations, most often involving the upper limbs and head, and the urogenital or cardiovascular systems. However, the link between these malformations and defective erythropoiesis is unclear and a defect in a molecule acting on both early embryonic development and haematopoiesis has been proposed. Whereas most cases are sporadic, inheritance is observed in 10% of patients, with a dominant or, more rarely, recessive pattern. One locus on chromosome 19q13.2 encoding ribosomal protein S19 accounts for a quarter of patients with either the dominant or the sporadic form. Families not linked with this locus have also been described. The diagnosis of DBA may be difficult and differential diagnoses include Fanconi's anaemia and acquired erythroid aplasias. Erythrocyte adenosine deaminase levels are generally high in DBA patients, which may help in the diagnosis, but they are not pathognomic. Corticosteroids are the main treatment option in DBA and these agents induce erythropoiesis in over 60% of patients. Some patients achieve complete remission, which may be either corticosteroid-induced or spontaneous. The increased in vitro erythropoiesis occasionally induced by the addition of specific cytokines, namely interleukin (IL)-3 and stem cell factor (SCF), has suggested their use in vivo. However, few patients have responded to IL-3, whereas SCF administration, though interesting in theory, has not yet been attempted. Patients who do not respond to corticosteroids and those who have to discontinue treatment because of adverse events must rely on long term transfusions, and are thus exposed to all of the associated complications. Bone marrow or cord blood transplantation has been performed in some patients. The former approach is burdened with severe complications and high mortality.

References

  1. J Clin Invest. 1976 Mar;57(3):673-7 - PubMed
  2. Bone Marrow Transplant. 1998 May;21(9):965-6 - PubMed
  3. Genomics. 1994 Oct;23(3):669-84 - PubMed
  4. Blood. 1994 Jan 15;83(2):617-8 - PubMed
  5. Pediatr Hematol Oncol. 1994 Mar-Apr;11(2):189-95 - PubMed
  6. Haematologica. 1993 Jan-Feb;78(1):38-9 - PubMed
  7. Lancet. 1994 Apr 9;343(8902):895-6 - PubMed
  8. J Clin Invest. 1978 Feb;61(2):489-98 - PubMed
  9. Br J Haematol. 1991 Oct;79(2):316-21 - PubMed
  10. N Engl J Med. 1996 Jul 18;335(3):157-66 - PubMed
  11. Br J Haematol. 1993 Jul;84(3):515-20 - PubMed
  12. Nat Genet. 1997 Oct;17(2):154-63 - PubMed
  13. Blood. 1992 Jan 1;79(1):25-8 - PubMed
  14. Am J Hum Genet. 1998 Nov;63(5):1388-95 - PubMed
  15. Bone Marrow Transplant. 1997 Jan;19(1):83-5 - PubMed
  16. Genomics. 1992 Apr;12(4):761-72 - PubMed
  17. Am J Pediatr Hematol Oncol. 1989 Winter;11(4):380-94 - PubMed
  18. Blood. 1992 Dec 15;80(12):3000-8 - PubMed
  19. Blood. 1991 Nov 1;78(9):2198-202 - PubMed
  20. Acta Paediatr. 1995 Feb;84(2):109-17 - PubMed
  21. Helv Paediatr Acta. 1981 Jul;36(3):267-70 - PubMed
  22. J Med Genet. 1997 Sep;34(9):779-82 - PubMed
  23. Exp Hematol. 1999 Jan;27(1):9-18 - PubMed
  24. Blood. 1988 Jan;71(1):226-9 - PubMed
  25. Curr Opin Hematol. 1994 Mar;1(2):113-8 - PubMed
  26. Am J Hematol. 1986 Oct;23(2):135-9 - PubMed
  27. Curr Opin Hematol. 1998 Mar;5(2):109-15 - PubMed
  28. Br J Haematol. 1995 Oct;91(2):313-8 - PubMed
  29. Br J Haematol. 1994 Jun;87(2):369-75 - PubMed
  30. Exp Hematol. 1997 Nov;25(12):1270-7 - PubMed
  31. Medicine (Baltimore). 1996 Mar;75(2):77-8 - PubMed
  32. Blood. 1991 Nov 1;78(9):2211-5 - PubMed
  33. Blood. 1989 Apr;73(5):1168-74 - PubMed
  34. Bone Marrow Transplant. 1997 Mar;19(5):507-8 - PubMed
  35. J Pediatr. 1969 Mar;74(3):471-4 - PubMed
  36. Contrib Nephrol. 1991;88:276-80; discussion 281 - PubMed
  37. Adv Exp Med Biol. 1986;195 Pt A:85-92 - PubMed
  38. Br J Haematol. 1999 Mar;104(4):841-8 - PubMed
  39. Br J Haematol. 1996 Sep;94(4):645-53 - PubMed
  40. Blood. 1998 Dec 1;92(11):4422-7 - PubMed
  41. Blood. 1991 Nov 1;78(9):2203-10 - PubMed
  42. Br J Haematol. 1995 Mar;89(3):457-64 - PubMed
  43. J Pediatr. 1995 Oct;127(4):654-9 - PubMed
  44. Blood. 1993 Aug 1;82(3):744-51 - PubMed
  45. Stem Cells. 1995 May;13(3):223-41 - PubMed
  46. Blood. 1986 Apr;67(4):962-8 - PubMed
  47. Nat Genet. 1997 Aug;16(4):368-71 - PubMed
  48. Am J Pediatr Hematol Oncol. 1988 Fall;10(3):217-23 - PubMed
  49. Bone Marrow Transplant. 1995 Jan;15(1):55-8 - PubMed
  50. Br J Haematol. 1989 Sep;73(1):112-20 - PubMed
  51. Blood. 1994 May 1;83(9):2444-50 - PubMed
  52. Eur J Pediatr. 1993 Mar;152(3):209-10 - PubMed
  53. J Pediatr Hematol Oncol. 1996 May;18(2):230-2 - PubMed
  54. N Engl J Med. 1994 Apr 28;330(17):1192-6 - PubMed
  55. Blood. 1996 Mar 15;87(6):2568-72 - PubMed
  56. Blood. 1992 Apr 15;79(8):2177-8 - PubMed

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