Case history
Case history
An 8-month-old boy of Mediterranean origin presents with pallor and abdominal distension, both of which are progressive. The perinatal history was uneventful, and the boy is noted to be pale, with poor feeding, decreased activity, and failure to thrive. Hepatosplenomegaly and mild bony abnormalities of the skull are noted (frontal and parietal bossing).
Other presentations
Children with beta-thalassaemia intermedia may present similarly to those with beta-thalassaemia major, but at an older age, usually 2 to 5 years.
People with beta-thalassaemia trait are usually asymptomatic, and the diagnosis is made based on screening when there is a positive family history, or during a work-up for mild anaemia.
Silent carriers for beta-thalassaemia are completely asymptomatic and have normal haematological parameters.[1][2]
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