Hemoglobin E–Β-Thalassemia Presenting With Severe Microcytic Hypochromic Anemia And Hepatosplenomegaly: A Case Report

Haemoglobin E-β-thalassemia (HbE/β-thalassemia) is a common hereditary hemoglobinopathy in South and Southeast Asia, with symptoms ranging from mild anaemia to severe transfusion-dependent disease. We describe the case of a 10-year-old girl who had intermittent jaundice and recurring abdominal pain for two years. A clinical examination indicated hepatosplenomegaly, moderate icterus, and noticeable pallor. A peripheral smear revealed severe microcytic hypochromic anaemia with a haemoglobin level of 4.3 g/dL, anisopoikilocytosis, target cells, teardrop cells, and nucleated red blood cells, all of which were indicative of chronic haemolytic anaemia, according to preliminary laboratory tests. Iron tests were within normal bounds, ruling out iron deficiency anaemia, while biochemical analysis revealed primarily indirect hyperbilirubinemia. HbE/β-thalassemia was validated by haemoglobin electrophoresis, which showed HbE 44.5%, HbF 52.2%, and HbA 3.3%. Echocardiography did not identify any structural cardiac abnormalities, but abdominal ultrasonography did demonstrate hepatosplenomegaly with gallbladder sludge. One unit (200 mL) of packed red blood cells, folic acid supplements, and supportive care were used to treat the patient. The haemoglobin level rose to 9.4 g/dL after the transfusion, and there were no transfusion-related side effects and a noticeable clinical improvement. The significance of taking into account HbE/β-thalassemia in children who exhibit severe microcytic anaemia, jaundice, and hepatosplenomegaly is demonstrated by this instance. In order to minimize disease-related complications, enhance quality of life, and maximize long-term clinical outcomes for patients with transfusion-dependent HbE/β-thalassemia, early diagnosis through haemoglobin electrophoresis, prompt initiation of transfusion therapy, and routine long-term follow-up are crucial.