Diamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature

Abstract

Introduction: Diamond–Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the RPS19 gene (25% of the cases). Methods: This case report describes a 10-month-old boy who presented with 2 months’ history of gradually increasing weakness and pallor. Results: The patient was diagnosed as a case of DBA based on peripheral blood finding, bone marrow aspiration with trephine biopsy reports, and genetic mutation analysis of the RPS19 gene. His father refused hematopoietic stem cell transplantation for financial constraints. Patient received prednisolone therapy with oral folic acid and iron supplements. Conclusion: Hemoglobin raised from 6.7 to 9.8g/dL after 1 month of therapeutic intervention.

Keywords

• diamond–blackfan anemia
• hematopoietic stem cell transplantation
• rps19 gene
• prednisolone
• bone marrow
• anemia
• genetic and rare disease