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

Advances in diagnosis have improved recognition of hemophilia carriers and women and girls with hemophilia, but substantial diagnostic delays and disparities remain.

• Why it matters: Underdiagnosis of these groups leads to untreated bleeding, reproductive challenges, and psychosocial issues, highlighting the need for systematic identification and equitable care.
• What they did: The article reviews pedigree analysis, bleeding assessment, laboratory tests, molecular diagnosis, and multidisciplinary management across clinical settings, emphasizing practical, evidence-based approaches.
• The result: Implementing family-centered care and early diagnosis can reduce bleeding complications, enhance reproductive health, and improve lifelong outcomes for affected females.