OBJECTIVES: Transfusion-dependent β-thalassemia (TDT) is a rare hereditary disorder wherein patients have reduced or absent β-globin and require regular red blood cell transfusions (RBCTs). Patients with TDT experience significant complications associated with the disease and iron overload that can lead to early mortality and significant clinical burden. This study describes the mortality and clinical complications in patients with TDT in France.

METHODS: This longitudinal, retrospective cohort study utilized the système national des données de santé’ (SNDS) database in France. Patients were identified by having an inpatient claim or registration in the long-term condition database (ALD, affection longue durée) with a diagnosis of β-thalassemia between January 1, 2012, and March 1, 2019. Eligible patients with TDT were required to have ≥8 RBCTs/year in any 2 consecutive years. Patients were required to have data for ≥1 year before and after their index date (i.e., the date of the eighth transfusion in the second year of 2 consecutive years). Patients were followed from index until death or study period end (March 1, 2020). Demographics were assessed at index. Mortality (proportion of total population, rate [deaths per 100 person-years], and mean age of death) and clinical complications (proportion of total population) were summarized descriptively during the follow-up period.

RESULTS: In total, 331 patients with TDT were included. Their mean age was 26.1 years, and 164 (49.5%) patients were female. Mean length of follow-up was 4.9 years. During follow-up, 15 (4.5%) patients in the cohort died. Mortality rate was 1.16 deaths per 100 person-years. Mean age of death was 52.5 years. The most prevalent complications were endocrine complications (26%), hepatobiliary complications (23%), cardiovascular complications (19%), and renal complications (9%).

CONCLUSIONS: Despite available care, patients with TDT experience numerous TDT-related clinical complications and increased mortality, underscoring the need for innovative therapies in this space.