Haemophilia A in Female Carriers: Diagnostic and Therapeutic Insights from Two Case Reports

Abstract

Haemophilia A is a rare X-linked inherited bleeding disorder caused by a deficiency or a defect in coagulation factor VIII. Due to a recessive X–linked inheritance pattern, most men are affected, whereas their female relatives remain carriers. There is little experience about the rare symptomatic haemophilia carriers (1 in 100,000 women); there is no standard protocol to prevent the bleeding complications. We report two cases of first-time diagnosed haemophilia A carrier- one is a young adolescent girl, and another is an antenatal woman. Pregnancy normally induces a hypercoagulable state with increased Factor VIII, vWF, and fibrinogen. However, in haemophilia A carriers and women with von Willebrand disease, factor levels may remain low until the second trimester, increasing miscarriage risk. Effective management necessitates early recognition of the condition, the implementation of targeted haemostatic interventions, and coordinated multidisciplinary care. However, therapeutic options remain limited in resource-constrained settings, thereby posing significant challenges to optimal clinical management. In this context, strengthening clinical awareness, alongside the development and implementation of standardised management protocols, is essential to improve patient outcomes and reduce morbidity among affected women.