A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology

Abstract

Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of anemia and received a blood transfusion at birth. Despite the absence of obvious clinical manifestations related to anemia thereafter, his condition was not given due consideration. The patient experienced a sudden onset of illness and was initially suspected to have thalassemia. However, subsequent pertinent examinations, notably bone marrow aspiration and genetic testing, led to the diagnosis of hereditary sideroblastic anemia alongside chronic atrophic gastritis. This case illustrates the diagnostic journey of anemia characterized by abnormal red blood cell morphology, aiming to facilitate early and accurate diagnosis, as well as prompt treatment, for such patients in clinical practice.