A CHALLENGING CASE OF BETA-THALASSEMIA MAJOR WITH INCREASED RING SIDEROBLASTS IN BONE MARROW

Abstract

Symptomatic Beta-thalassemia is one of the most common genetic disorders worldwide. Early clinical manifestations are variable. Routine hematologic analysis is usually sufficient to diagnose the disease, but sometimes diagnosis can be more difficult. We present the case of a 1-year-old male patient who underwent a bone marrow biopsy with clinical signs of inherited bone marrow/erythropoietic failure. Numerous ringed sideroblasts were found in iron-stained smears raising the suspicion of congenital sideroblastic anemia. The child was later genetically diagnosed as beta-thalassemia major.