Paeds Vivas · haematology-oncology-and-transfusion
Thalassaemia syndromes: Viva
Branching clinical structured oral on the thalassaemia syndromes in children, covering the molecular pathophysiology of ineffective erythropoiesis, the haemoglobin electrophoresis diagnosis, the regular transfusion target, the iron chelation programme with deferasirox and deferiprone, the cardiac T2 star surveillance, and the curative options of allogeneic transplant and betibeglogene gene therapy, appraising the Cappellini deferasirox, Borgna-Pignatti survival, Modell T2 star and BELIEVE luspatercept evidence.
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Opening question
The candidate is expected to start with the molecular mechanism. Beta-thalassaemia major is an autosomal recessive disorder of beta-globin synthesis, so the unpaired alpha chains precipitate in the red cell precursors and the cells die in the marrow, a process called ineffective erythropoiesis that is the dominant cause of the anaemia. The candidate who explains why the newborn is well, because fetal haemoglobin compensates until it falls at six to twelve months, has the clinical timeline as well as the mechanism. [12]
References6ShowHide
- [1]Thompson AA, Walters MC, Kwiatkowski J Gene therapy in patients with transfusion-dependent beta-thalassemia. N Engl J Med, 2018.PMID 29669226
- [2]Cappellini MD, Viprakasit V, Georgiev P Long-term efficacy and safety of luspatercept for the treatment of anaemia in patients with transfusion-dependent beta-thalassaemia (BELIEVE): final results from a phase 3 randomised trial. Lancet Haematol, 2025.PMID 39947215
- [4]Cappellini MD, Cohen A, Piga A A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood, 2006.PMID 16352812
- [8]Modell B, Khan M, Darlison M Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. J Cardiovasc Magn Reson, 2008.PMID 18817553
- [11]Hoffbrand AV, Taher A, Cappellini MD How I treat transfusional iron overload. Blood, 2012.PMID 22919029
- [12]Piel FB, de Montalembert M, Das R Thalassaemia. Nat Rev Dis Primers, 2026.PMID 42426018