Iron overload and morbidities in Chinese with non-transfusion-dependent thalassaemia

Non-transfusion-dependent thalassaemia (NTDT) is associated with chronic health problems. A cross-sectional study was conducted in Hong Kong Chinese patients to evaluate the presentation and complications of NTDT. One hundred and nine patients aged between 6.7 and 72.3 years (median: 32 years), including 97 with α-thalassaemia intermedia and 12 with β-thalassaemia intermedia, were included from two public hospitals. Among them, 82% had never been transfused and 18% had received sporadic transfusions. Chelation therapy had been given to 7% of patients. Notably, 52% of patients had chronic health deficits with a strong positive correlation with advanced age, log-transformed ferritin levels and history of splenectomy. Hepatic iron overload was detected in 43% of patients, and extramedullary haematopoiesis in 14%. At least one endocrinopathy developed in 12% of patients. Patients with non-deletional α-thalassaemia intermedia and β-thalassaemia intermedia exhibited more severe disease than those with deletional α-thalassaemia intermedia. This study highlighted the need for ongoing monitoring and management strategies for NTDT to mitigate chronic health issues and improve outcomes.