OBJECTIVES: Sickle cell disease (SCD) is a group of inherited blood disorders affecting multiple organ systems, which results in variable clinical presentations. This research aimed to identify the most important and relevant SCD symptoms and impacts on patients’ lives from the patient perspective, as confirmed by literature and clinical experts.

METHODS: Sixty-minute interviews eliciting the symptoms and impacts characterizing SCD were conducted with 20 individuals with SCD who experienced ≥1 SCD pain crisis in the last year. Interviews were audio recorded, transcribed, and analyzed. Patient interview results were confirmed via a literature review and meetings with clinical experts and were then organized into a conceptual model of the disease.

RESULTS: Saturation analyses confirmed sample size adequacy. Six adolescents (16-17 years) and 14 adults (≥18 years) participated in interviews (mean age=33.8 years [SD=14.9], 75.0% female, and a median of 5 pain crises reported in the last year). Patients reported 22 unique symptoms; the most frequently reported (by ≥33.3%) were pain (100.0%), fatigue/tiredness (80.0%), joint stiffness (65.0%), vision issues (65.0%), breathing issues (60.0%), decreased appetite (60.0%), insomnia (55.0%), fever (50.0%), numbness/tingling (45.0%), swelling (40.0%), difficulty concentrating (35.0%), headache (35.0%), and joint swelling (35.0%). These symptoms were experienced as part of SCD, generally, and during pain crises, and patients most commonly identified pain (80.0%) and fatigue/tiredness (50.0%) as important to improve with treatment. Patients reported 29 impacts across nine domains, the most frequently reported (by ≥33.3%) were social activities (60.0%), difficulty walking (55.0%), physical activities (45.0%), and absenteeism (40.0%). The symptoms and impacts reported by patients were largely endorsed by empirical literature and/or clinical experts.

CONCLUSIONS: Patient interviews identified important and relevant SCD symptoms and impacts, which were subsequently supported by literature and experts. This research may inform the selection of target concepts for improvement with new SCD treatments.