Quazi Smita Haq, Dilsad Jahan, Muhammad Sahidul Islam Sikder, Muhammad Sazzad Zayed Chowdhury, Masba Uddin Chowdhury, Md Maruf Al Hasan, Abu Jafar Mohammed Saleh
Background: Diamond-Blackfan anaemia is a rare congenital red blood cell aplasia characterized by failure of erythropoiesis, associated phenotypical abnormality in up to 50 % of patients, growth retardation in about 30 % of patients, and a predisposition to malignancy. It presents with anaemia in early infancy. This disorder is heterogenous in nature both genetically and clinically. The inheritance is mostly Autosomal dominant. Current treatment options comprise corticosteroid therapy, chronic packed red blood cell transfusion, and hematopoietic stem cell transfusion and recent attention to gene therapy.
Case presentation: We are presenting here a male baby of nonconsanguineous parents who had anaemia since early infancy and was brought to us at age of 1 year 3 months. He presented with gradual pallor requiring monthly transfusion since at his three months of age. He had several consultations with physician, but appropriate diagnosis could not be reached. He has no phenotypical anomaly, but there was failure to thrive. He had no h/o obvious infection and is always an active child. The diagnosis of Diamond-Blackfan anaemia was made since the patient presented with anaemia, reticulocytopenia, grossly reduced red blood cell count, and reduced red cell precursors in the bone marrow. Genetic screening revealed mutation in ribosomal protein S19 (RPS 19) gene in the baby. His Hb-electrophoresis, e ADA was normal.
Conclusion: Diamond-Blackfan anaemia is a rare disease that causes significant morbidity and mortality if not diagnosed early and managed appropriately. This case reminds clinicians about DBA as a cause of infantile anaemia and highlights the difficulty in diagnosing Diamond-Blackfan anaemia in resource limited countries
Correspondence: Dr. Abu Jafar Md. Saleh, Consultant and Co-ordinator, Department of Haematology and HSCT, Apollo Hospitals Dhaka.