Abstract

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).

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