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Anemia in children due to decreased red blood cell production

Claudio Sandoval, MD
Section Editor
Donald H Mahoney, Jr, MD
Deputy Editor
Carrie Armsby, MD, MPH


Anemias caused by decreased red blood cell (RBC) production have been grouped under the broad category of bone marrow failure, although their mechanisms and/or presentations may be markedly different. They include (table 1):

Pure red cell aplasia, either congenital or acquired

Bone marrow failure involving more than one cell line

Anemia caused by marrow replacement (malignancy, storage disease)

Anemia caused by decreased erythropoietin availability

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Literature review current through: Nov 2017. | This topic last updated: May 18, 2016.
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  1. Lahoti A, Harris YT, Speiser PW, et al. Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Pediatr Blood Cancer 2016; 63:306.
  2. Bessler M, Mason PJ, Link DC, Wilson DB. Inherited bone marrow failure syndromes. In: Nathan and Oski's hematology and oncology of infancy and childhood, 8th ed, Orkin SH, Fisher DE, Ginsburg D, Look AT, Lux SE, Nathan DG (Eds), Saunders, Philadelphia 2015. Vol 1, p.182.
  3. Halperin DS, Freedman MH. Diamond-blackfan anemia: etiology, pathophysiology, and treatment. Am J Pediatr Hematol Oncol 1989; 11:380.
  4. Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 1996; 94:645.
  5. Alter B. Inherited bone marrow failure. In: Nathan and Oski's Hematology of Infancy and Childhood, 6th ed, Nathan DG, Orkin SH, Ginsberg D, Look AT (Eds), WB Saunders, Philadelphia 2003. p.280.
  6. Dutt S, Narla A, Lin K, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood 2011; 117:2567.
  7. Jaako P, Flygare J, Olsson K, et al. Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. Blood 2011; 118:6087.
  8. Orfali KA, Ohene-Abuakwa Y, Ball SE. Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol 2004; 125:243.
  9. Boria I, Garelli E, Gazda HT, et al. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat 2010; 31:1269.
  10. Cmejla R, Cmejlova J, Handrkova H, et al. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat 2007; 28:1178.
  11. Doherty L, Sheen MR, Vlachos A, et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 2010; 86:222.
  12. Gazda HT, Grabowska A, Merida-Long LB, et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 2006; 79:1110.
  13. Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 2008; 83:769.
  14. Farrar JE, Nater M, Caywood E, et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 2008; 112:1582.
  15. Mirabello L, Macari ER, Jessop L, et al. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood 2014; 124:24.
  16. Wang R, Yoshida K, Toki T, et al. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Br J Haematol 2015; 168:854.
  17. Farrar JE, Vlachos A, Atsidaftos E, et al. Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood 2011; 118:6943.
  18. Kuramitsu M, Sato-Otsubo A, Morio T, et al. Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood 2012; 119:2376.
  19. Quarello P, Garelli E, Carando A, et al. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica 2010; 95:206.
  20. Garçon L, Ge J, Manjunath SH, et al. Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. Blood 2013; 122:912.
  21. Gripp KW, Curry C, Olney AH, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A 2014; 164A:2240.
  22. Abkowitz JL, Broudy VC, Bennett LG, et al. Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia. Blood 1992; 79:25.
  23. Bagnara GP, Zauli G, Vitale L, et al. In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia. Blood 1991; 78:2203.
  24. Sieff CA, Yokoyama CT, Zsebo KM, et al. The production of steel factor mRNA in Diamond-Blackfan anaemia long-term cultures and interactions of steel factor with erythropoietin and interleukin-3. Br J Haematol 1992; 82:640.
  25. Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest 2012; 122:2439.
  26. McFarren A, Jayabose S, Fevzi Ozkaynak M, et al. Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. J Pediatr Hematol Oncol 2007; 29:338.
  27. Ball S. Diamond Blackfan anemia. Hematology Am Soc Hematol Educ Program 2011; 2011:487.
  28. Vlachos A, Ball S, Dahl N, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 2008; 142:859.
  29. 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 Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 1999; 46:553.
  30. Chen S, Warszawski J, Bader-Meunier B, et al. Diamond-blackfan anemia and growth status: the French registry. J Pediatr 2005; 147:669.
  31. Vlachos A, Rosenberg PS, Atsidaftos E, et al. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood 2012; 119:3815.
  32. Clinton C, Gazda HT. Diamond-Blackfan anemia. GeneReviews (internet). Available at: http://www.ncbi.nlm.nih.gov/books/NBK7047/.
  33. Giri N, Kang E, Tisdale JF, et al. Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia. Br J Haematol 2000; 108:167.
  34. Glader BE, Backer K, Diamond LK. Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med 1983; 309:1486.
  35. Whitehouse DB, Hopkinson DA, Pilz AJ, Arredondo FX. Adenosine deaminase activity in a series of 19 patients with the Diamond-Blackfan syndrome. Adv Exp Med Biol 1986; 195 Pt A:85.
  36. Glader BE, Backer K. Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol 1988; 68:165.
  37. Fargo JH, Kratz CP, Giri N, et al. Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. Br J Haematol 2013; 160:547.
  38. Gagne KE, Ghazvinian R, Yuan D, et al. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood 2014; 124:437.
  39. Alter BP. Childhood red cell aplasia. Am J Pediatr Hematol Oncol 1980; 2:121.
  40. Vlachos A, Muir E. How I treat Diamond-Blackfan anemia. Blood 2010; 116:3715.
  41. 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.
  42. Akiyama M, Yanagisawa T, Yuza Y, et al. Successful treatment of Diamond-Blackfan anemia with metoclopramide. Am J Hematol 2005; 78:295.
  43. Leblanc TM, Da Costa L, Marie I, et al. Metoclopramide treatment in DBA patients: no complete response in a French prospective study. Blood 2007; 109:2266.
  44. Ball SE, Tchernia G, Wranne L, et al. Is there a role for interleukin-3 in Diamond-Blackfan anaemia? Results of a European multicentre study. Br J Haematol 1995; 91:313.
  45. Leonard EM, Raefsky E, Griffith P, et al. Cyclosporine therapy of aplastic anaemia, congenital and acquired red cell aplasia. Br J Haematol 1989; 72:278.
  46. Payne EM, Virgilio M, Narla A, et al. L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway. Blood 2012; 120:2214.
  47. Jaako P, Debnath S, Olsson K, et al. Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia. Blood 2012; 120:2225.
  48. Pospisilova D, Cmejlova J, Hak J, et al. Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. Haematologica 2007; 92:e66.
  49. Jaako P, Debnath S, Olsson K, et al. Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia. Haematologica 2014; 99:1792.
  50. Howell JC, Joshi SA, Hornung L, et al. Growth hormone improves short stature in children with Diamond-Blackfan anemia. Pediatr Blood Cancer 2015; 62:402.
  51. Aase JM, Smith DW. Congenital anemia and triphalangeal thumbs: a new syndrome. J Pediatr 1969; 74:471.
  52. Muis N, Beemer FA, van Dijken P, Klep-de Pater JM. The Aase syndrome. Case report and review of the literature. Eur J Pediatr 1986; 145:153.
  53. Alter BP. Thumbs and anemia. Pediatrics 1978; 62:613.
  54. Hurst JA, Baraitser M, Wonke B. Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. Am J Med Genet 1991; 40:482.
  55. D'Avanzo M, Pistoia V, Santinelli R, et al. Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome. Pediatr Hematol Oncol 1994; 11:189.
  56. Shimamura A, Williams DA. Acquired aplastic anemia and pure red cell aplasia. In: Nathan and Oski's hematology and oncology of infancy and childhood, 8th ed, Orkin SH, Fisjer DE, Ginsburg D, Look AT, Lux SE, Nathan DG (Eds), Saunders, Philadelphia 2015. Vol 1, p.161.
  57. Wranne L. Transient erythroblastopenia in infancy and childhood. Scand J Haematol 1970; 7:76.
  58. Lovric VA. Anaemia and temporary erythroblastopaenia in children. A syndrome. Australas Ann Med 1970; 19:34.
  59. Oski FA. Transient Erythroblastopenia. Pediatr Rev 1982; 4:25.
  60. Penchansky L, Jordan JA. Transient erythroblastopenia of childhood associated with human herpesvirus type 6, variant B. Am J Clin Pathol 1997; 108:127.
  61. Elian JC, Frappaz D, Pozzetto B, Freycon F. Transient erythroblastopenia of childhood presenting with echovirus 11 infection. Acta Paediatr 1993; 82:492.
  62. Dessypris EN, Krantz SB, Roloff JS, Lukens JN. Mode of action of the IgG inhibitor of erythropoiesis in transient erythroblastopenia of children. Blood 1982; 59:114.
  63. Tamary H, Kaplinsky C, Shvartzmayer S, et al. Transient erythroblastopenia of childhood. Evidence for cell-mediated suppression of erythropoiesis. Am J Pediatr Hematol Oncol 1993; 15:386.
  64. Mupanomunda OK, Alter BP. Transient erythroblastopenia of childhood (TEC) presenting as leukoerythroblastic anemia. J Pediatr Hematol Oncol 1997; 19:165.
  65. Wodzinski MA, Lilleyman JS. Transient erythroblastopenia of childhood due to human parvovirus B19 infection. Br J Haematol 1989; 73:127.
  66. Prassouli A, Papadakis V, Tsakris A, et al. Classic transient erythroblastopenia of childhood with human parvovirus B19 genome detection in the blood and bone marrow. J Pediatr Hematol Oncol 2005; 27:333.
  67. Rogers BB, Rogers ZR, Timmons CF. Polymerase chain reaction amplification of archival material for parvovirus B19 in children with transient erythroblastopenia of childhood. Pediatr Pathol Lab Med 1996; 16:471.
  68. Gerrits GP, van Oostrom CG, de Vaan GA, Bakkeren JA. Transient erythroblastopenia of childhood. A review of 22 cases. Eur J Pediatr 1984; 142:266.
  69. Hays T, Lane PA Jr, Shafer F. Transient erythroblastopenia of childhood. A review of 26 cases and reassessment of indications for bone marrow aspiration. Am J Dis Child 1989; 143:605.
  70. Labotka RJ, Maurer HS, Honig GR. Transient erythroblastopenia of childhood. Review of 17 cases, including a pair of identical twins. Am J Dis Child 1981; 135:937.
  71. Shaw J, Meeder R. Transient erythroblastopenia of childhood in siblings: case report and review of the literature. J Pediatr Hematol Oncol 2007; 29:659.
  72. Gustavsson P, Klar J, Matsson H, et al. Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene. Br J Haematol 2002; 119:261.
  73. Ware RE, Kinney TR. Transient erythroblastopenia in the first year of life. Am J Hematol 1991; 37:156.
  74. Miller R, Berman B. Transient erythroblastopenia of childhood in infants < 6 months of age. Am J Pediatr Hematol Oncol 1994; 16:246.
  75. Rogers ZR, Bergstrom SK, Amylon MD, et al. Reduced neutrophil counts in children with transient erythroblastopenia of childhood. J Pediatr 1989; 115:746.
  76. Cherrick I, Karayalcin G, Lanzkowsky P. Transient erythroblastopenia of childhood. Prospective study of fifty patients. Am J Pediatr Hematol Oncol 1994; 16:320.
  77. Ide T, Sata M, Nouno R, et al. Clinical evaluation of four cases of acute viral hepatitis complicated by pure red cell aplasia. Am J Gastroenterol 1994; 89:257.
  78. al-Awami Y, Sears DA, Carrum G, et al. Pure red cell aplasia associated with hepatitis C infection. Am J Med Sci 1997; 314:113.
  79. Davidovitz Y, Halpern Z, Wardi J, et al. Pure red cell aplasia responsive to interferon-alpha in a patient with hepatitis C virus infection. Acta Haematol 1998; 100:213.
  80. Parmentier L, Boucary D, Salmon D. Pure red cell aplasia in an HIV-infected patient. AIDS 1992; 6:234.
  81. Purtilo DT, Zelkowitz L, Harada S, et al. Delayed onset of infectious mononucleosis associated with acquired agammaglobulinemia and red cell aplasia. Ann Intern Med 1984; 101:180.
  82. Socinski MA, Ershler WB, Tosato G, Blaese RM. Pure red blood cell aplasia associated with chronic Epstein-Barr virus infection: evidence for T cell-mediated suppression of erythroid colony forming units. J Lab Clin Med 1984; 104:995.
  83. Brown KE, Young NS. Human parvovirus B19 infections in infants and children. Adv Pediatr Infect Dis 1997; 13:101.
  84. Brown KE, Young NS. Parvoviruses and bone marrow failure. Stem Cells 1996; 14:151.
  85. Brown KE, Hibbs JR, Gallinella G, et al. Resistance to parvovirus B19 infection due to lack of virus receptor (erythrocyte P antigen). N Engl J Med 1994; 330:1192.
  86. Rechavi G, Vonsover A, Manor Y, et al. Aplastic crisis due to human B19 parvovirus infection in red cell pyrimidine-5'-nucleotidase deficiency. Acta Haematol 1989; 82:46.
  87. Lowenthal EA, Prchal JT. Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. Blood 1995; 86:411.
  88. Duncan JR, Potter CB, Cappellini MD, et al. Aplastic crisis due to parvovirus infection in pyruvate kinase deficiency. Lancet 1983; 2:14.
  89. Serjeant GR, Serjeant BE, Thomas PW, et al. Human parvovirus infection in homozygous sickle cell disease. Lancet 1993; 341:1237.
  90. Mallouh AA, Qudah A. An epidemic of aplastic crisis caused by human parvovirus B19. Pediatr Infect Dis J 1995; 14:31.
  91. Lefrere JJ, Courouce AM, Girot R, et al. Six cases of hereditary spherocytosis revealed by human parvovirus infection. Br J Haematol 1986; 62:653.
  92. Tomiyama J, Adachi Y, Hanada T, Matsunaga Y. Human parvovirus B19-induced aplastic crisis in autoimmune haemolytic anaemia. Br J Haematol 1988; 69:288.
  93. Shimamura A, Guinan G. Acquired aplastic anemia. In: Nathan and Oski's Hematology of Infancy and Childhood, 6th ed, Nathan DG, Orkin SH, Ginsberg D, Look AT (Eds), WB Saunders, Philadelphia 2003. p.256.
  94. Skinnider LF, McSheffrey BJ, Sheridan D, Deneer H. Congenital spherocytic hemolytic anemia in a family presenting with transient red cell aplasia from parvovirus B19 infection. Am J Hematol 1998; 58:341.
  95. Rao SP, Miller ST, Cohen BJ. B19 parvovirus infection in children with malignant solid tumors receiving chemotherapy. Med Pediatr Oncol 1994; 22:255.
  96. Wong TY, Chan PK, Leung CB, et al. Parvovirus B19 infection causing red cell aplasia in renal transplantation on tacrolimus. Am J Kidney Dis 1999; 34:1132.
  97. Koduri PR, Kumapley R, Valladares J, Teter C. Chronic pure red cell aplasia caused by parvovirus B19 in AIDS: use of intravenous immunoglobulin--a report of eight patients. Am J Hematol 1999; 61:16.
  98. Tugal O, Pallant B, Shebarek N, Jayabose S. Transient erythroblastopenia of the newborn caused by human parvovirus. Am J Pediatr Hematol Oncol 1994; 16:352.
  99. Van Damme-Lombaerts R, Herman J. Erythropoietin treatment in children with renal failure. Pediatr Nephrol 1999; 13:148.
  100. Nomiyama J, Shinohara K, Inoue H. Improvement of anemia by recombinant erythropoietin in a patient with postoperative hypopituitarism. Am J Hematol 1994; 47:249.
  101. Das KC, Mukherjee M, Sarkar TK, et al. Erythropoiesis and erythropoietin in hypo- and hyperthyroidism. J Clin Endocrinol Metab 1975; 40:211.
  102. Wickramasinghe SN. Congenital dyserythropoietic anemias. Curr Opin Hematol 2000; 7:71.
  103. Wickramasinghe SN. Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data. Blood Rev 1998; 12:178.
  104. Marks PW, Mitus AJ. Congenital dyserythropoietic anemias. Am J Hematol 1996; 51:55.
  105. Shalev H, Tamary H, Shaft D, et al. Neonatal manifestations of congenital dyserythropoietic anemia type I. J Pediatr 1997; 131:95.
  106. Benjamin JT, Rosse WF, Daldorf FG, McMillan CW. Congential dyserythropoietic anemia--type IV. J Pediatr 1975; 87:210.
  107. Heimpel H, Schwarz K, Ebnöther M, et al. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. Blood 2006; 107:334.
  108. Tamary H, Dgany O, Proust A, et al. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol 2005; 130:628.
  109. Dgany O, Avidan N, Delaunay J, et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 2002; 71:1467.
  110. Babbs C, Roberts NA, Sanchez-Pulido L, et al. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 2013; 98:1383.
  111. Schwarz K, Iolascon A, Verissimo F, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 2009; 41:936.
  112. Russo R, Gambale A, Langella C, et al. Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. Am J Hematol 2014; 89:E169.
  113. Amir A, Dgany O, Krasnov T, et al. E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. Acta Haematol 2011; 125:202.
  114. Iolascon A, Russo R, Esposito MR, et al. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica 2010; 95:708.
  115. Iolascon A, Delaunay J, Wickramasinghe SN, et al. Natural history of congenital dyserythropoietic anemia type II. Blood 2001; 98:1258.
  116. Liljeholm M, Irvine AF, Vikberg AL, et al. Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood 2013; 121:4791.
  117. Arnaud L, Saison C, Helias V, et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 2010; 87:721.
  118. Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000; 24:266.
  119. Hollanda LM, Lima CS, Cunha AF, et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet 2006; 38:807.
  120. Kratz CP, Niemeyer CM, Karow A, et al. Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation. Leukemia 2008; 22:432.
  121. Lavabre-Bertrand T, Blanc P, Navarro R, et al. alpha-Interferon therapy for congenital dyserythropoiesis type I. Br J Haematol 1995; 89:929.
  122. Tamary H, Shalev H, Perez-Avraham G, et al. Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. Blood 2008; 112:5241.
  123. Heimpel H, Anselstetter V, Chrobak L, et al. Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood 2003; 102:4576.
  124. Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol 2005; 131:431.
  125. Ariffin WA, Karnaneedi S, Choo KE, Normah J. Congenital dyserythropoietic anaemia: report of three cases. J Paediatr Child Health 1996; 32:191.
  126. 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.
  127. Ayas M, al-Jefri A, Baothman A, et al. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. Bone Marrow Transplant 2002; 29:681.
  128. 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.
  129. Nair V, Das S, Sharma A. Hematopoietic stem cell transplantation in children with genetic defects. Indian Pediatr 2009; 46:241.