A CASE REPORT OF DIAMOND-BLACKFAN ANEMIA IN A CHILD

Abstract

Diamond–Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by normochromic macrocytic or normocytic anemia with markedly reduced or absent erythroid precursors in the bone marrow. It typically presents in early infancy. Once diagnosed, corticosteroids and red blood cell transfusions constitute the mainstays of treatment, although some patients ultimately require hematopoietic stem cell transplantation. To describe the clinical and hematological characteristics of a one-year-old female child diagnosed with Diamond–Blackfan anemia. We report the case of a one-year-old female child who presented with severe anemia and reticulocytopenia, requiring regular red blood cell transfusions from the fourth day of life. Bone marrow examination revealed selective suppression of the erythroid lineage, confirming the diagnosis of Diamond–Blackfan anemia. It should be strongly suspected in infants, with or without associated congenital anomalies, who present early in life with anemia and reticulocytopenia. Early recognition is essential for appropriate management and long-term follow-up.