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Beta-thalassaemia major — RACP Paediatrics MCQ

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HardHaematology and oncologyBeta-thalassaemia majorRACP Paediatrics

A 9-month-old of Mediterranean ancestry has pallor, poor feeding and failure to thrive. Examination shows frontal bossing and hepatosplenomegaly. Blood tests show severe microcytic anaemia with normal ferritin and elevated HbF on electrophoresis. What is the most likely diagnosis?

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Correct answer: C — Beta-thalassaemia major

Beta-thalassaemia major presents in infancy as fetal haemoglobin falls, causing severe microcytic anaemia, growth failure and hepatosplenomegaly. Normal ferritin and elevated HbF make iron deficiency less likely. Family origin and haemoglobin electrophoresis are key clues.

Reference: RACP Knowledge Guides; Australian haemoglobinopathy guidance