Novel Cases of Diamond Blackfan Anaemia in Two Nigerian Toddlers: Roadmap for Care in Resource-Limited Nations

Document Type : Case Reports


1 Department of Paediatrics, Faculty of Medicine, Nnamdi Azikiwe University, Awka, Nigeria

2 Department of Paediatrics, Faculty of Medicine, Nnamdi Azikiwe University, Anambra, Nigeria

3 Department of Haematology, Faculty of Medicine, Nnamdi Azikiwe University, Anambra, Nigeria


Diamond Blackfan anaemia (DBA) is a rare cause of anaemia in children. To the best of our knowledge, these are the first cases reported in Nigeria. Two toddlers with a history of recurrent anaemia, which started within the first three months of life. Investigations conducted in both cases yielded macrocytic anaemia, reticulocytopenia, and bone marrow biopsy, indicating reduced erythroid precursors. Erythrocyte adenosine deaminase was elevated in a subject while the other had abnormal genitalia. Only one subject achieved remission following two months of therapy with steroids. A high index of suspicion for DBA should be drawn in children with a history of recurrent non-haemolytic anaemia from infancy refractory to available basic therapy.


Main Subjects

[1] Dutt S, Narla A, Lin K, Mullally A, Abayasekara N, Megerdichian C, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood, The Journal of the American Society of Hematology. 2011;117(9):2567-76.
[3] Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Endocrine dysfunction in Diamond–Blackfan anemia (DBA): A report from the DBA Registry (DBAR). Pediatric blood & cancer. 2016;63(2):306-12.
[4] McFarren A, Jayabose S, Ozkaynak MF, Tugal O, Sandoval C. Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. Journal of pediatric hematology/oncology. 2007;29(5):338-40. doi: 10.1097/MPH.0b013e31805d8f45.
[5] Bessler M, Mason P, Link D, DB W. Inherited bone marrow failure syndromes. In: Orkin S, Fishe  r DE, Ginsburg D, Look A, Lux S, Nathan D, editors. Nathan and Oski’s hematology and oncology of infancy and childhood. Philadelphia: Saunders Elseviers; 2015.
[6] Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC. Diamond-Blackfan anaemia in the UK: analysis of 80 cases from a 20-year birth cohort. British journal of haematology. 1996;94(4):645-53.
[7] Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859-76. DOI: 10.1111/j.1365-2141.2008.07269.x.
[8] Halperin DS, Freedman MH. Diamond-blackfan anemia: etiology, pathophysiology, and treatment. The American journal of pediatric hematology/oncology. 1989;11(4):380-94.
[9] 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. Pediatric research. 1999;46(5):553.
[10] Aneke JC, Okocha CE. Blood transfusion safety; current status and challenges in Nigeria. Asian journal of transfusion science. 2017;11(1):1-5. doi: 10.4103/0973-6247.200781.
[11] Gordon RR, Varadi S. Congenital hypoplastic anaemia (pure red-cell anaemia) with periodic erythroblastopenia. The Lancet. 1962;279(7224):296-9.
[12] Guillozet N, JF M. Congenital hypoplastic red cell anaemia of childhood:(the Blackfan-diamond syndrome). Case report, diagnosis and management.
[13] Wranne L. Transient erythroblastopenia in infancy and childhood. Scandinavian journal of haematology. 1970;7(2):76-81.
[14] Noel CB. Diamond–Blackfan anemia RPL35A: a case report. Journal of medical case reports. 2019;13(1):185-89.
Volume 3, Issue 2
June 2021
Pages 101-104
  • Receive Date: 19 March 2021
  • Revise Date: 03 May 2021
  • Accept Date: 14 May 2021
  • First Publish Date: 19 May 2021