Thalassaemia syndromes: Case

Clinical case of a boy with beta-thalassaemia major managed from infancy, covering the haemoglobin electrophoresis diagnosis, the regular transfusion programme with its exact target, the iron chelation with deferasirox and the cardiac T2 star surveillance, the endocrine late effects, and the discussion of curative therapy.

paediatric haematology long case2 min readVerification in progress

Prompt

A twelve-year-old boy with known beta-thalassaemia major, diagnosed at nine months on a haemoglobin electrophoresis that showed a haemoglobin F of 78 percent, attends the thalassaemia clinic. He is transfused every four weeks with leucodepleted red cells to a pre-transfusion haemoglobin of around 95 g per litre, and he takes deferasirox 28 mg per kg per day. His ferritin is 1850 micrograms per litre, his cardiac T2 star magnetic resonance imaging is 8 milliseconds, and his liver iron is high. He is short, in early puberty, and has an impaired glucose tolerance on his last oral glucose tolerance test. The examiner asks how you interpret the cardiac and endocrine findings, what you change in the management, and how you counsel the family about the curative options.

Interpretation of the cardiac and endocrine findings

The cardiac T2 star of 8 milliseconds marks severe myocardial iron loading and a high short-term risk of heart failure, the leading cause of death in thalassaemia major. A value of over 20 milliseconds is normal, and a value under 10 milliseconds is the threshold for severe loading, so this boy is in the high-risk band. The impaired glucose tolerance and the short stature with delayed puberty are the endocrine consequences of iron loading of the pancreas and the anterior pituitary, and they confirm that the deferasirox alone is not controlling the iron. The high ferritin and liver iron show a total body iron load that is out of control, and the picture is one of a child at risk of the very cardiac and endocrine complications the chelation programme is built to prevent. ^[8]^[11]

References5Show

[1]Thompson AA, Walters MC, Kwiatkowski J Gene therapy in patients with transfusion-dependent beta-thalassemia. N Engl J Med, 2018.PMID 29669226
[7]Borgna-Pignatti C, Cappellini MD, De Stefano P Cardiac morbidity and mortality in deferoxamine- or deferiprone-treated patients with thalassemia major. Blood, 2006.PMID 16373663
[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

Thalassaemia syndromes: Case

paediatric haematology long case2 min readVerification in progress

Interpretation of the cardiac and endocrine findings

References5Show

[1]Thompson AA, Walters MC, Kwiatkowski J Gene therapy in patients with transfusion-dependent beta-thalassemia. N Engl J Med, 2018.PMID 29669226
[7]Borgna-Pignatti C, Cappellini MD, De Stefano P Cardiac morbidity and mortality in deferoxamine- or deferiprone-treated patients with thalassemia major. Blood, 2006.PMID 16373663
[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