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

Abstract

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.

Keywords

• blood transfusion
• diamond blackfan anaemia
• erythroid precursors
• haematopoietic cell transplant
• prednisolone
• pure red cell aplasia