Review outlines diagnosis of hemophilia carriers and affected women and girls

Hemophilia carriers and women and girls with hemophilia remain underdiagnosed despite potentially significant bleeding, reduced clotting factor levels, and reproductive and psychosocial challenges. A practical review in Blood outlines an evidence-based approach to their identification, diagnosis and management across everyday clinical situations. The available abstract reports no study population or quantitative outcomes.

The review discusses pedigree analysis, bleeding assessment, laboratory investigations, molecular diagnosis, genetic counselling and multidisciplinary management. Advances in coagulation testing, molecular genetics and international recommendations have improved recognition and classification, but variable clinical presentations and limited awareness continue to delay diagnosis. Disparities in access to care persist, particularly in resource-limited settings.

The authors advocate moving from an individual patient-centered approach toward family-centered care, with systematic identification of at-risk females and timely access to comprehensive hemophilia services. This approach is relevant to clinicians assessing bleeding symptoms or family histories and coordinating specialist care. However, the full text was unavailable; the abstract does not provide specific diagnostic thresholds, testing algorithms or evidence estimates supporting the proposed approach.