Many women with hemophilia-related mutations lack access to medical care

Many women carrying hemophilia-related mutations are not receiving the medical attention they need, according to a large-scale multinational study. Despite being treated in established healthcare systems, these women, often referred to as hemophilia carriers, frequently remain undiagnosed and excluded from official patient registries.

Researchers found that a lack of access to genetic testing and insufficient staffing to track family histories are primary obstacles to proper care. These systemic gaps mean that many women are missing out on essential monitoring and specialized treatment, even in high-income countries.

“[Hemophilia carriers] access to care remains inconsistent globally,” researchers noted. They emphasized that even though most participating clinics were in well-resourced nations, there is a lack of demonstrable care for this underserved group.

The study, “Evaluation of Access to Care for Women Carriers of Haemophilia in Haemophilia Treatment Centres: A Multinational Experience,” was published in Haemophilia.

Recommended Reading

Feb. 14, 2025 Columns by Jennifer Lynne

It’s time for women with bleeding disorders to be seen

The genetics of hemophilia

Hemophilia refers to disorders caused by mutations in genes that encode proteins needed for blood clotting, specifically clotting factor VIII in hemophilia A and factor IX in hemophilia B. These mutations result in missing or dysfunctional clotting proteins, preventing proper clotting and leading to symptoms such as prolonged and easy bleeding.

Because the genes responsible for both types of hemophilia are located on the X chromosome, the condition is inherited in an X-linked manner. This means that men and boys, who have only one X chromosome, are more likely to develop the disease. Because women and girls have two X chromosomes, meaning a healthy copy of the gene can often make up for the faulty one, it can lead to the common but incorrect assumption that they are unaffected.

Indeed, nearly 30% of females carrying a genetic mutation have clotting factor levels consistent with a diagnosis of hemophilia. Even those with normal factor levels may still experience bleeding symptoms. Despite this, the term “carrier” has contributed to limited access for women and girls to diagnosis, bleeding management, and research.

Current guidelines from the World Federation of Hemophilia (WFH) recommend that all hemophilia carriers, regardless of clotting factor levels, be registered at specialized treatment centers, with those who have low factor levels treated and managed similarly to men and boys with hemophilia.

To evaluate how well current care for hemophilia carriers meets these recommendations, nine WFH nurses assessed care provision at hemophilia treatment centers in nine countries across six continents, including the U.S., Canada, Brazil, the U.K., the Netherlands, Kenya, India, the United Arab Emirates, and New Zealand.

Across participating centers, six of nine hemophilia treatment centers registered carriers, including those with normal or reduced clotting factor levels, as patients. However, the number of registered carriers was considered likely incomplete relative to the overall hemophilia population.

This was reflected in estimates showing substantially fewer carriers than expected. Based on expected numbers, there should be about 1.6 female carriers for every male with hemophilia, yet most centers reported far fewer. This under-identification was observed even in well-established treatment centers in high-income countries.

“This finding highlights that inadequate registration of carriers is not limited to resource-constrained environments but remains a widespread issue,” the team wrote.

Barriers to specialized care

The team suggested that barriers in implementing key recommendations may help explain this gap. Although guidelines call for genetic counseling, testing, and detailed family history assessment to identify carriers, these steps were not consistently carried out.

Three of the nine centers (38%) reported fully meeting these recommendations, while four (50%) reported partial implementation and one reported not meeting them.

Limited access to genetic testing within healthcare systems was identified as a major barrier, also in well-resourced centers. Even where testing was available, delays in obtaining results and limited staffing to review and maintain detailed family histories made it difficult to systematically identify potential carriers.

As a result, some carriers may remain undiagnosed and miss access to key aspects of care, including counseling, clotting factor testing, and bleeding assessments. This may leave them without appropriate monitoring or treatment, particularly before surgery, during pregnancy, or around childbirth — when the risk of serious bleeding complications is higher.

Differences in access to information, monitoring, and treatment were also observed between the participating centers.

The team also noted that, although the study included centers from multiple continents, most were located in high-income countries. As such, the findings may not fully reflect global care, particularly in low- and middle-income regions where additional barriers to diagnosis and treatment may exist.

“Access to care for haemophilia carriers remains inconsistent globally, with substantial gaps in registration, assessment, and longitudinal follow-up,” the team wrote. “Under-identification of carriers persists even in well-resourced healthcare systems, underscoring the need for systematic registration, routine bleeding assessment, and coordinated multidisciplinary care.”