Revisão narrativa sobre os desafios da Hemofilia no Brasil: diagnóstico, tratamento e políticas públicas

Abstract

Introduction: Hemophilia is a hereditary coagulopathy characterized by a deficiency in Factor VIII (Hemophilia A) or Factor IX (Hemophilia B), resulting in recurrent hemorrhagic episodes and the risk of disabling joint complications. Despite advances in clinical management, challenges persist regarding timely diagnosis, access to treatment, and the organization of care within the Brazilian public health system. Objective: To understand, based on scientific literature, the primary challenges related to the diagnosis of hemophilia in Brazil, considering their implications for treatment and public health policies. Methodology: This is a narrative literature review conducted through searches in scientific databases using the descriptors: hemophilia, diagnosis, and public policies. Portuguese-language studies were selected, with an emphasis on recent publications related to the Brazilian context. Results: Studies indicate that the diagnosis of hemophilia still occurs late in many cases, mainly due to limitations in access to specialized laboratory tests and regional inequalities in service provision. Treatment based on clotting factor replacement, especially in prophylactic form, shows significant progress; however, it still faces challenges such as the development of inhibitors, high therapy costs, and technological dependence. Discussion: The findings highlight that difficulties in diagnosis and treatment are linked to the organization of health services and structural inequalities within the system, impacting access, continuity of care, and the patients' quality of life. Conclusion: Although there have been advances in hemophilia care in Brazil, structural, economic, and social barriers persist, compromising early diagnosis and adequate treatment. It is necessary to strengthen public policies, expand access to specialized services, and invest in health education to promote more equitable care.