Abstract
Background Chronic red blood cell transfusion (CRCT) is a therapeutic cornerstone for individuals with sickle cell disease (SCD), commonly used for stroke prevention, preoperative optimization, during pregnancy, and management of severe cardiopulmonary disease. While patients often report improved health-related quality of life (HRQoL), the day-to-day impact of transfusion is poorly understood. Therefore, our study aimed to comprehensively assess the symptom and procedural burden of chronic CRCT in individuals with SCD by capturing both quantified impacts and lived experiences via interviews across pediatric and adult populations.
Methods We conducted a single-center mixed-methods study in non-gravid pediatric and adult patients with a diagnosis of SCD, who had been receiving CRCT, either manual or automated, for ≥6 months. Quantitative data collection included the ASCQ-Me Short Forms v2.0 for adults and the PedsQL v4.0 for pediatric participants. Adult survey data were analyzed descriptively using mean scores and standard deviations for each domain, while pediatric responses were summarized using score ranges due to the small sample size. Categorical variables such as age, gender, race, and transfusion indications were reported as frequencies and percentages. Per scoring conventions, ASCQ-Me scores were converted to standardized T-scores (mean = 50, SD = 10), and PedsQL scores were reverse-scored and linearly transformed to a 0–100 scale, with higher scores indicating better functioning for both instruments. Qualitative data were collected through age-appropriate, semi-structured interview guides with tailored probes. A single trained study team member conducted all interviews in a private setting to ensure consistency. Interviews were audio-recorded, transcribed verbatim, and thematically analyzed using inductive line-by-line coding in MAXQDA software.
Results Of the 37 participants who consented, 20 had surveys completed on the day of transfusion that were available for analysis (adults n=17; pediatric patient/caregiver dyads n=3), and 13 participants (9 adults, 4 pediatric patients) completed qualitative interviews. Among adults, 53% were female, 88% identified as Black/African American, and 82% had hemoglobin SS genotype; Stroke (35%) and pain (29%) were the most common indications for CRCT. Adults reported the greatest burden in pain (M=34.7, SD=31.7) and stiffness(M=25.0, SD=24.9), with consistently lower-than-average scores (M < 50) across emotional, sleep, and social domains when compared to the SCD field test reference population. In the three children (ages 8–13 years), all had hemoglobin SS genotype and received CRCT for stroke prevention. Children reported better functioning across physical, emotional, social, and school domains compared to caregiver proxy reports. However, caregivers reported lower functioninginphysical activity (range: 20–80 vs. 60–95) and school (range: 25–83 vs. 33–92) compared to their child's reports.
Four overarching qualitative themes emerged in both adults and children: (1)“Fatigue is my normal” – Participants described a cyclical pattern of fatigue, with transient improvement after transfusion and a predictable energy decline 2–3 weeks later. (2) “Every access comes with a price” – Repeated IV sticks, port complications, and scarring contributed to fear, pain, and stigma. (3) “Getting there is half the battle” – Transportation barriers and post-transfusion fatigue frequently disrupted care. (4) “Caught between transfusion and classroom/work” – Treatment schedules interfered with school and job responsibilities, leading to frequent absenteeism.
Conclusion This is the first study to integrate quantitative and qualitative data to comprehensively characterize the multidimensional burden of CRCT among pediatric and adult patients with SCD. Adult survey results revealed significant impairments in sleep, physical and psychosocial functioning, particularly in pain and stiffness; while interviews highlighted modifiable challenges, such as vascular access, transportation, and life balance, vs possibly disease-associated fatigue. These findings underscore the need for patient-centered interventions that minimize procedural burden, address transportation concerns, and promote school and work participation. Ongoing cross-sectional and longitudinal data will further enhance understanding of patient burden, and these early insights may provide a foundation for future research and care redesign.
