Abstract

BackgroundDiamond–Blackfan anemia is a rare congenital red blood cell aplasia characterized by failed erythropoiesis, congenital abnormalities in up to 50% of patients, growth retardation in up to 30% of patients, and a predisposition to malignancy. Diamond–Blackfan anemia is both clinically and genetically a heterogenous condition ranging from subtle asymptomatic erythroid abnormalities to non-immune hydrops fetalis. Current treatment options include corticosteroid therapy, chronic red blood cell transfusions, and hematopoietic stem cell transplantation with gene therapy receiving recent attention. We report the first documented case of Diamond–Blackfan anemia in a Caucasian girl secondary to a sporadic heterozygous whole gene deletion in RPL35A in South Africa. Limited resources, non-availability of tests, unfamiliarity that comes with rare diseases, an expanded differential diagnosis, and an associated neutropenia led to a delay in the diagnosis of Diamond–Blackfan anemia. This case reminds clinicians of Diamond–Blackfan anemia as a cause of aplastic anemia and highlights the difficulty and obstacles in diagnosing Diamond–Blackfan anemia in resource-limited countries.Case presentationWe report a case of a 6-week-old Caucasian girl presenting with urosepsis and heart failure secondary to a severe anemia and neutropenia. Limited experience and resources resulted in a delay in diagnosis. Genetic studies later confirmed a heterozygous whole gene deletion of RPL35A. Initial treatment was directed toward correcting the anemia with red blood cell transfusion every 3 to 5 weeks.ConclusionDiamond–Blackfan anemia is a rare disease that carries significant morbidity and mortality if not diagnosed early and managed appropriately. Limited health resources, patient registries, and specialists as seen in developing countries result in a paucity of knowledge about Diamond–Blackfan anemia in Africa. This case reminds clinicians about Diamond–Blackfan anemia as a cause for anemia in infants, the limitations in making the diagnosis in under-resourced health care systems, and the need for standardized treatment protocols applicable to resource-limited countries.

Highlights

  • Diamond–Blackfan anemia is a rare congenital red blood cell aplasia characterized by failed erythropoiesis, congenital abnormalities in up to 50% of patients, growth retardation in up to 30% of patients, and a predisposition to malignancy

  • Patient registries, and specialists as seen in developing countries result in a paucity of knowledge about Diamond–Blackfan anemia in Africa

  • Diamond–Blackfan anemia (DBA) is a rare congenital red blood cell (RBC) aplasia characterized by failed erythropoiesis, congenital abnormalities, and a predisposition to malignancy

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Summary

Conclusion

DBA a rare cause for red cell aplasia needs to be considered in the differential diagnosis especially in infants. The diagnosis of DBA in this patient subsequently highlighted the difficulty in diagnosing DBA in a resource-limited setting, and the lack of consensus in treating DBA. This case highlights the need for the establishment of a protocolized workup for infants with persistent anemia of unknown cause that includes rare genetic causes. Familiarization with international treatment guidelines is important in the treatment of rare diseases but local guidelines need to be established This case highlights the paucity of knowledge around DBA in Africa and the need for further research into the epidemiology of DBA in Africa and the establishment of local treatment guidelines. Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations

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