Understanding the Association between Red Blood Cell Transfusion Dependency and Humanistic, Psychosocial, and Psychological Burden in Patients with β-Thalassemia from the Patients' Perspective

Introduction: A recent systematic literature review (Betts M, et al . Clin Ther 2020;42:322-337) perceived that in the past 2 decades, advancements in the treatment and management of β-thalassemia have resulted in improvements in iron control. However, clinical complications, including alloimmunization, iron overload, and resultant cardiac and liver disease, remain a challenge. While red blood cell (RBC) transfusions are used to treat anemia in patients with β-thalassemia, those who are transfusion dependent reported poorer health-related quality of life (HRQoL) compared with the US general population. The literature misses a holistic understanding of the humanistic, psychosocial, and psychological burden of transfusion dependency in β-thalassemia in terms of the impact of disease and treatment on patients' daily lives, distress arising from the possibility of adverse events, and comorbidities.

Methods: First, concept elicitation qualitative interviews (n=3) and cognitive pre-test interviews (n=3) were conducted with patients from the Cooley's Anemia Foundation (CAF) to test and revise a 30-minute web-based patient survey questionnaire for clarity and relevance. Following, a larger cross-sectional study included adult patients with β-thalassemia in the USA identified by the CAF. Patients were recruited via email invitation or social media, and invited by CAF to take the survey, at which point informed consent was obtained. Inclusion criteria included ≥18 years of age, self-reported physician diagnosis of β-thalassemia, and ≥1 RBC transfusion in the past 6 months. Survey instruments included the Functional Assessment of Cancer Therapy-Anemia (FACT-An), Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder-7 (GAD-7), ad hoc questions around patient treatment experience, side effects resulting from β-thalassemia treatment, and psychological burden due to treatment. All results were reported descriptively, with frequency counts and percentages for categorical/ordinal data and mean and standard deviations (SD) for continuous data.

Results: Overall, 100 patients in the USA completed the survey; 65% were female, average age was 36.0 (SD=10.4) years, 42% were Asian/Pacific Islander, and 33% reported a household income of USD 100,000 or more. On average, patients had been diagnosed with β-thalassemia for 34.4 (SD=10.3) years and received 9.6 (SD=4.3) RBC transfusions in the past 6 months. Among all patients, 70% reported moderate to extremely high burden of RBC transfusions, 81% reported experiencing iron overload due to RBC transfusion, and 42% reported not being as social with friends/family due to the time needed for RBC transfusions and the associated recovery time. Over 50% of patients reported mild to severe depression (52%) via PHQ-9 and anxiety (53%) via GAD-7 symptoms over the previous 2 weeks. The FACT-An (0-188), where higher scores indicate better outcomes, average score was 132 (SD=33.5), while fatigue symptoms (0-52) average score was 33.3 (SD=12.3), and anemia symptoms (0-28) average score was 20.4 (SD=5.5) in the past 7 days. A week prior to receiving an RBC transfusion, 18% of patients reported their overall health as "very well" versus 52% 1 week after an RBC transfusion.

Conclusions: Although upon RBC transfusion HRQoL temporarily improves, overall, these results demonstrated patients with transfusion-dependent β-thalassemia experienced poor health prior to RBC transfusion, mild to severe depression and anxiety, increased psychological burden, and suboptimal HRQoL. These findings contribute to the understanding of the humanistic and psychological burden of RBC transfusion dependency in patients with β-thalassemia and suggest that new treatment options that can improve outcomes in this population are needed.