Unheard and Under‐Supported: Health‐Related Quality of Life in Children, Adolescents, and Young Adults With Sickle Cell Disease

BACKGROUND: Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy affecting millions of individuals worldwide. The clinical expression and psychosocial burden of SCD vary widely across geographical, cultural, and healthcare system contexts, underscoring the need for setting-specific approaches to assessment. Understanding how patients perceive the impact of SCD on their health, daily functioning, and treatment experiences within their own context is essential to identifying unmet needs, addressing barriers to care, challenging misconceptions, and improving health-related quality of life (HRQoL). METHODS: This cross-sectional study assessed HRQoL in children, adolescents, and young adults (AYAs) with SCD in Italy, and evaluated the impact of sociodemographic, clinical, and hematological variables, exploring discrepancies between patient and caregiver perceptions. RESULTS: Fifty-three patients aged 6-26 years and 62 caregivers of patients were enrolled. Half of patients showed moderate HRQoL compromise in at least three domains (pain interference and intensity, fatigue), with two-thirds experiencing recent pain. AYAs demonstrated significantly worse outcomes than children in pain interference (p = 0.0001), pain intensity (p = 0.0039), depression (p = 0.0273), and fatigue (p = 0.0298). Caregiver-patient agreement was consistently low, particularly among adolescents. Young adults reported inadequate emotional support despite moderate instrumental support, with all expressing a need for psychological assistance. CONCLUSION: This first assessment of HRQoL in Italian youths with SCD identifies adolescence as a critical vulnerability period with worsening outcomes and unrecognized emotional needs. Significant patient-caregiver perception discrepancies highlight unmet needs. Findings underscore the need to integrate HRQoL measures into routine care and develop targeted interventions for adolescents, including enhanced psychological support and structured transition programs.