Severe microcytosis in a hemoglobin E/Β-thalassemia patient with signs of iron deficiency: A case report

Background: β-thalassemia is a hereditary disorder characterized by a decrease in the synthesis of β-globin chains that decreases hemoglobin in erythrocytes, low erythrocyte production, and anemia. Case presentation: A 6-year-old girl came with complaints of paleness for one week. Physical examination showed vital signs within normal limits, conjunctival anemia, and hepatomegaly. Investigations: HGB 5.4 g/dL, MCV 44.5 fL, MCH 15.5 pg, MCHC 34.8 g/dL, RDW-CV 29.2%, WBC 4,770/μL, PLT 2,728,000/μL, Serum iron 29 g/dL, TIBC 217 g/dL and transferrin saturation of 13.36%. Peripheral blood smears showed target cells, teardrop cells, ovalocytes, fragmentocytes, cigar cells, and pseudothrombocytosis by automated hematology tools caused by the misinterpretation of small erythrocytes as platelets. Hemoglobin electrophoresis showed a decrease in HbA (4.9%), as well as an increase in HbF (18.3%), HbE (70.5%), and HbA2 (6.3%). The patient was diagnosed with β-thalassemia. Discussion: Thalassemia with severe microcytosis suggests possible coexistence with iron deficiency. A complete iron profile examination is required in these patients to ensure appropriate and comprehensive medical management. Conclusion: Iron profile examination plays an essential role in the management and diagnosis of β-thalassemia patients.