PSYCHOSOCIAL AND FUNCTIONAL IMPACTS OF HEMOPHILIA: FINDINGS FROM A THEMATIC ANALYSIS OF PATIENT EXPERIENCES IN BRAZIL

Although advances in hemophilia care have significantly improved clinical outcomes, people with hemophilia (PwH) in Brazil continue to experience substantial psychosocial challenges. These range from psychological distress to limitations in work, education, social participation, and family life. To explore the lived experiences of Brazilian PwH with a focus on psychosocial and functional challenges that persist despite access to treatment. A targeted thematic analysis was conducted using qualitative data from semi- structured interviews with 23 participants recruited through a national hemophilia patient association (Federação Brasileira de Hemofilia). Interviews were audio-recorded, transcribed verbatim, and analyzed using a thematic framework approach. Participants also completed the EQ- 5D-5L questionnaire to assess self-reported health-related quality of life. Most participants were working-age adults (52.2%) and had either severe hemophilia A (n = 16) or B (n = 7). An analysis of EQ-5D-5L responses showed extensive impairment among participants: 87% reported mobility limitations, and 65% experienced moderate to severe pain. Notably, only one individual (4.3%) indicated the highest level of impairment across all five domains, while another (4.3%) reported no impairment in any domain. Qualitative analysis identified three main themes: 1) Experiences of Pain and Disability: Participants described intense, chronic joint pain and loss of mobility, often associated with visible joint deformities. These impairments led to feelings of shame, frustration, and lowered self-esteem. Fear of progressive disability, especially with aging, was a common source of anxiety. 2) Educational and Professional Impact: Many PwH reported interrupted or modified educational trajectories due to treatment schedules, limited physical endurance, or frequent hospital visits. Discrimination in the labor market was also reported, including job loss or exclusion following disclosure of their diagnosis. 3) Family and Financial Burden: Family members, particularly mothers and partners, often had to give up employment, relocate to access care, or provide continuous caregiving. Financial stress was exacerbated by travel costs to hemophilia centers and lack of local physiotherapy services. Despite clinical advances, Brazilian PwH continues to face profound limitations in physical, emotional, and social domains. These findings highlight the urgent need to strengthen access to comprehensive, multidisciplinary care, especially psychosocial support and rehabilitation services. This is consistent with the World Federation of Hemophilia’s guidelines, which emphasize that effective hemophilia management must extend beyond clotting factor replacement to include holistic, patient- and family-centered care.