A 4-year-old boy of Mediterranean descent has hemoglobin 5.8 g/dL, MCV 58 fL, MCH 16 pg. Peripheral smear shows target cells, anisopoikilocytosis, and nucleated red cells. HPLC shows HbA absent, HbF 93%, HbA2 5.2%. The diagnosis is:

• A Beta-thalassemia intermedia
• B Beta-thalassemia major (Cooley anemia) ✓
• C HbE/beta-thalassemia
• D Alpha-thalassemia major (Hb Bart's hydrops fetalis)

Explanation

Beta-thalassemia major presents in early childhood with severe transfusion-dependent anemia, HbA absent on HPLC (reflects homozygous beta0 mutations with no functional beta-chain production), compensatory elevation of HbF to >90%, and elevated HbA2. The smear shows severe microcytic hypochromic anemia with target cells, nucleated RBCs, and marked anisopoikilocytosis. Beta-thalassemia intermedia has some HbA present (beta+/beta+ or beta+/beta0) and less severe anemia. HbE/beta-thal would show HbE peak on HPLC.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

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