Management and clinical outcomes of transfusion-dependent thalassaemia major in an Australian tertiary referral clinic.

Objective: To evaluate the management, clinical outcomes and adherence to chelation therapy in adult transfusion-dependent patients with thalassaemia major.

Design, Setting And Participants: We reviewed all transfusion-dependent adults with thalassaemia major (n = 44) attending the Haematology Department at the Prince of Wales Hospital, Sydney, in 2005. Data were collected retrospectively (2000-2005) and prospectively (2005) for cross-sectional clinical audit from clinical reviews, patient questionnaires, pharmacy dispensing records and routine laboratory investigations.

Main Outcome Measures: Iron overload and its complications; complications of transfusion; adherence to subcutaneous and oral chelation therapy (expressed as a percentage based on the ratio of the amount dispensed to the prescribed dose).

Results: The prevalence of diabetes mellitus was 18%; hypothyroidism, 16%; hypogonadism, 32%; cardiomyopathy, 9%; and osteopenia/osteoporosis, 83%. Serological evidence of exposure to hepatitis C and hepatitis B was present in 41% and 14% of patients, respectively, and 23% of patients had active hepatitis C infection. Predictors of complications included increasing number of years of transfusion, increasing age, coprescription of desferrioxamine and deferiprone, and poor adherence to desferrioxamine treatment. There was a wide range of adherence to therapy with desferrioxamine (0-100% of prescribed dose; mean, 46%; median, 49%) and deferiprone (29%-214% of prescribed dose; mean, 117%; median 112.5%).

Conclusion: The health outcomes in our patients were similar to or better than those of patients in other cohorts, but, despite the availability of effective chelating agents, our patients had marked iron overload and a high incidence of complications.