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◆ Journal of clinical medicine2026-07-28

Focus on Women with Hemophilia and Carriers: How to Address All the Existing Gaps in Diagnosis and Care.

Paola Ranalli, Lucia Di Re, Francesco Guardalupi, Daniela Bruno, Mauro Di Ianni

原始摘要(英文原文)· Original abstract
Background/Objectives: Research on hemophilia carriers and women and girls with hemophilia (WGH) has progressed more slowly than studies involving male patients. In recent years, however, attention to female carriers and affected women has increased substantially. Emerging evidence shows that carriers may experience significant bleeding symptoms regardless of their coagulation factor levels, with a notable impact on quality of life. Despite this, gender-based disparities continue to delay diagnosis and limit access to appropriate clinical management and treatment. Women also face a considerable psychosocial burden-not only as carriers or affected individuals but also as mothers or just caregivers or partners of male patients. Closing this gap requires proactive screening, regular pedigree updates, and, above all, improved education among healthcare professionals to ensure equitable care for all. Methods: A literature review was conducted to summarize current data and advances in this field while highlighting areas that remain unclear and require more effective management strategies. Results: The findings emphasize the importance of a more inclusive approach to hemophilia care, addressing diagnostic, therapeutic and psychosocial challenges in a systematic way. Conclusions: This review underscores the need for fair recognition and comprehensive care across the full spectrum of female experiences with hemophilia.
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Focus on Women with Hemophilia and Carriers: How to Address All the Existing Gaps in Diagnosis and Care. — 科研速览 Science Skim