A 5-year-old boy presents with severe anaemia (Hb 5.2 g/dL), microcytosis, target cells, hepatosplenomegaly, and a family history of blood transfusions. HbA2 is 3.8% and HbF is 65%. The most likely diagnosis is:
- A HbE/beta-thalassaemia compound heterozygote
- B Sickle cell disease (HbSS)
- C Beta-thalassaemia major (Cooley's anaemia) ✓
- D Alpha-thalassaemia major (Hb Bart's hydrops)
Correct answer: C. Beta-thalassaemia major (Cooley's anaemia)
Explanation
Beta-thalassaemia major presents in early childhood with severe transfusion-dependent anaemia, hepatosplenomegaly from extramedullary haemopoiesis, and characteristic HPLC showing absent or minimal HbA with elevated HbF (>60–90%) and slightly elevated HbA2. HbF compensates for absent beta-globin chains. HbE/beta-thal is phenotypically similar but HbE is a structurally abnormal haemoglobin detectable on HPLC. Sickle cell disease shows HbS on HPLC. Alpha-thalassaemia major (Hb Bart's hydrops) is incompatible with extrauterine life.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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