A 13-year-old boy presents with the following hematologic results: RBC = 5.76 million, Hb, 10.4 g/dL; Hct, 35.9%; MCV (mean corpuscular volume), 63 fL: MCH (mean corpuscular hemoglobin), 18.2 pg; MCHC (mean corpuscular hemoglobin concentration), 29%; and RDW (red blood cell distribution width), 13.5. Morphology includes mild anisocytosis and occasional target cells. All iron studies are normal. Electrophoresis on cellulose acetate at pH 8.4 indicates an increase in HbF and HbA2. What thalassemia syndrome is evident?
ββ-thalassemia
Based on the hematologic results provided, the presence of mild anisocytosis, occasional target cells, and an increase in HbF and HbA2 on electrophoresis, the thalassemia syndrome evident is beta-thalassemia minor. This is a condition in which there is a decreased production of beta-globin chains, leading to an imbalance in the production of alpha- and beta-globin chains. The increase in HbA2 is a characteristic finding in beta-thalassemia minor. The normal iron studies and absence of significant microcytosis make iron-deficiency anemia unlikely.
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