Challenges faced by women and girls with hemophilia or are carriers: an expert call for closing the diagnosis gap.

Abstract

Introduction: Women and girls (WG) carrying factor 8/9 gene variant can present with hemophilia with low factor VIII/IX levels and bleeding phenotype similar to men and boys with additional gynecological bleeding, or as Hemophilia carriers (HC) with normal factor levels with/without bleeding. This review aims to address the gender gap in diagnosing WG with hemophilia (WGwH)/HC and discusses ways to improve diagnosis for appropriate and timely management of their unique challenges.

Areas covered: This review summarizes available evidence published in Pubmed, regarding the various challenges in WGwH/HC screening and diagnosis. Patient-related challenges in recognizing their bleeding manifestations and provider-related factors causing delay in diagnosis are outlined. Barriers encountered by providers in screening, evaluation and diagnosis including utilization of screening tools, laboratory diagnosis with factor assays and genetic testing are discussed.

Expert opinion: The diagnosis gap in WGwH/HC can be narrowed by improving patient and provider knowledge, and by developing expert recommendations for uniform screening, laboratory and genetic testing. Creating international WGwH/HC registries, outreach, twinning programs with developing countries or centers of excellence can further help improve understanding of the unique global challenges in diagnosing these patients. Research efforts can further help mitigate existing gaps and improve overall care in WGwH/HC.