How I Identify and Diagnose Carriers of Hemophilia and Women and Girls with Hemophilia

Carriers of hemophilia and women and girls with hemophilia remain underdiagnosed despite increasing recognition that they may experience clinically significant bleeding, reduced clotting factor levels, and important reproductive and psychosocial challenges. Advances in coagulation testing, molecular genetics and international recommendations have improved their recognition and classification, yet substantial variability in clinical presentation and limited awareness continue to delay diagnosis and access to appropriate care. Furthermore, important disparities persist across healthcare systems, particularly in resource-limited settings. This article provides a practical, evidence-based approach to the identification, diagnosis and management of carriers of hemophilia and women and girls with hemophilia across a range of clinical situations encountered in everyday practice. We discuss the role of pedigree analysis, bleeding assessment, laboratory investigations, molecular diagnosis, genetic counselling and multidisciplinary management, while highlighting common diagnostic pitfalls, areas of uncertainty and current evidence supporting clinical decision-making. Improving recognition of carriers and women and girls with hemophilia requires a shift from an individual patient-centered approach to a family-centered model of care that promotes systematic identification of at-risk females, timely diagnosis and equitable access to comprehensive hemophilia services. Earlier recognition and appropriate management are essential to reduce bleeding complications, optimize reproductive care and improve lifelong health outcomes.