Blackfan diamond anemia: Case presentation

Abstract

Introduction: Blackfan Diamond Anemia is a congenital disorder characterized by normochromic macrocytic anemia, with decreased or absent erythroid precursors in the bone marrow, which occurs in the early stages of life, once diagnosed, steroids and red blood cells transfusions are mainstays of treatment, although some patients require bone marrow transplantation. Objective: To describe the characteristics of a female infant with Blackfan Diamond Anemia. Case presentation: A 5-month-old female patient with severe macrocytic anemia and reticulopenia with transfusion requirements from two months of age, in addition to variable phenotypic abnormalities, for which a medullogram was performed, confirming a selective depression of the erythropoietic system. Conclusions: The diagnosis of Diamond Blackfan Anemia should be suspected in infants with or without malformations who present anemia and reticulopenia from early stages of life.