The intrinsic coagulation pathway’s clotting factor deficiencies are the hallmark of hemophilia, a genetic bleeding disorder (Bolton-Maggs and Pasi, 2003; Mannucci and Tuddenham, 2001). The most common types are hemophilia A, caused by factor VIII deficiency, and hemophilia B, caused by factor IX deficiency (Franchini and Mannucci, 2013; Salen and Babiker, 2023). Individuals with hemophilia frequently experience recurrent bleeding episodes, particularly in muscles and joints, which may lead to long-term complications such as hemophilic arthropathy and disability (Llinás, 2010; Srivastava et al., 2013). Advances in molecular genetics, diagnostic techniques, and therapeutic strategies have significantly improved disease management and patient survival (Peyvandi et al., 2016; Franchini, 2013). This narrative review provides a comprehensive overview of hemophilia, including its global epidemiology, genetic basis, pathophysiology, clinical manifestations, diagnostic approaches, complications, and current treatment modalities (Stonebraker et al., 2010; Soucie et al., 1998). Special emphasis is placed on emerging therapies such as gene therapy, extended half-life clotting factors, and
non-factor replacement treatments (Peyvandi et al., 2016; Franchini, 2013). Despite substantial progress in treatment, disparities in access to care persist across different regions of the world (Srivastava, 2005; Berntorp and Shapiro, 2012). Strengthening healthcare systems, promoting early diagnosis, and improving global access to advanced therapies remain essential for optimizing outcomes in individuals with hemophilia (Srivastava et al., 2013).
Review Article
English
P. 89-95