A newborn presents with severe hemolytic anemia, pallor, and splenomegaly. Peripheral smear shows hypochromic microcytic red cells, target cells, and nucleated RBCs. Hemoglobin electrophoresis reveals HbF 90%, HbA2 3%, and no HbA. This pattern is consistent with:
- A Beta-thalassemia major ✓
- B HbS/beta-thalassemia
- C Alpha-thalassemia major (Hb Bart's hydrops)
- D Sickle cell disease (HbSS)
Correct answer: A. Beta-thalassemia major
Explanation
Beta-thalassemia major (Cooley's anemia) presents after 6 months of age when fetal hemoglobin switch occurs; absence of HbA with elevated HbF and only trace HbA2 indicates a beta0/beta0 or beta0/beta+ genotype causing near-complete absence of adult hemoglobin. Hb Bart's hydrops presents in utero with gamma-chain tetramers (Hb Bart) and is usually fatal at birth, with no normal chains detectable. HbS/beta-thal would show HbS and HbF but some HbA2 elevation. HbSS shows predominantly HbS.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
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