Introduction: Transfusion-dependent β-thalassemia (TDT) is a chronic, inherited blood disorder characterized by chronic anemia requiring affected individuals to receive regular red blood cell transfusions (RBCTs) to maintain adequate hemoglobin levels. This is essential for survival alongside regular chelation therapy to avoid iron overload. While the patient burden of TDT is well-documented, there is limited evidence describing the experiences of those providing informal care for patients with TDT. Caregivers of patients with TDT play a crucial role supporting patient medical, emotional, and daily living needs, over many years. This role can exact a considerable toll on caregivers' physical and mental health, financial stability, and overall quality of life. This study aims to evaluate the humanistic and economic impact of caregiving for patients living with TDT across North America and Europe using validated instruments and a bespoke quantitative survey to assess caregiver burden, quality of life, and economic impacts.

Methods: A quantitative online survey was developed to collect self-reported demographic, clinical, and health-related quality of life data from caregivers of patients with TDT living in the US, UK, France, Italy, and the Netherlands. The survey included multiple standardized instruments: the CarerQOL-7D and CarerQOL-VAS; the Zarit Burden Interview short form (ZBI-12); the Work Productivity and Activity Impairment (WPAI) questionnaire; and the EuroQol 5-Dimension 5-Level (EQ-5D-5L) and EQ-5D VAS. Caregiver characteristics and out-of-pocket expenses were also evaluated. Survey invitations were sent to caregiver communities via patient advocacy groups. Participants were required to provide consent and meet the eligibility criteria of ≥18 years of age and be caring for a patient with a TDT diagnosis experiencing ≥8 RBCTs per year for the last two years. Descriptive analyses were conducted for caregiver-reported data and validated measures. Results were similar across North America and Europe and thus were pooled for reporting. Monetary values were standardized to U.S. dollars (USD) using contemporaneous exchange rates.

Results: The survey was completed by 70 caregivers of patients with TDT from Europe (60.0%) and the US (40.0%). Caregivers were predominately female (71.4%), married or living with a domestic partner (77.1%), with an average age of 43.5 (SD: 10.2) years. The majority were employed (62.9%) with 44.3% working full-time. Caregivers had been providing care for an average of 12.6 (SD: 8.1) years, most commonly for a child or dependent young adult (mean patient age 24.8 years [SD: 14.0]), with an average of 16.2 (SD: 9.1) RBCTs in the past year and considerable clinical complications.

CarerQOL-7D (mean 72.5; SD: 19.5) (0-100 scale; 100=best QOL) and CarerQOL-VAS (6.8; SD: 1.8) (0-10 scale; 10=best QOL) scores, along with the ZBI-12 burden score (16.8; SD: 9.2) (0-48 scale; 48=the most burden), indicate substantial quality of life impacts due to caregiver burden. EQ-5D-5L index (0.85; SD: 0.19) (0-1 scale; 1 = best QOL) and VAS (76.7; SD: 15.7) (0-100 scale; 100=best QOL) suggest moderate overall health status impacts. Among employed caregivers, WPAI outcomes showed caregiving affected work productivity substantially: 14% (SD: 25%) absenteeism, 33% (SD: 23%) presenteeism, and 39% (25%) overall work impairment (0-100 scale; 0=no impact). On average, caregivers reported spending approximately 38 hours weekly on health-related tasks and domestic activities for the patient.

Caregivers incurred substantial out-of-pocket costs for patient-related expenses, averaging $4,400 annually (US: $5,998; ex-US: $3,350), while the median annual income was just $51,083 (IQR: $32,000-80,000). Almost all caregivers (88.6%) received no financial support; 48.6% were the primary earners in their household.

Conclusion: Caregivers of patients with TDT experience significant multidimensional burden. The findings reveal caregiving has a substantial impact on caregiver health, quality of life, productivity and results in financial burden. These findings highlight the urgent need for tailored support systems, financial assistance, and healthcare policies that recognize and address the distinct challenges of caring for patients with TDT. Moreover, future initiatives aimed at improving access to emerging therapies may help ease the substantial burden experienced by caregivers.

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2025
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