Proactive carrier screening breaks the silent thread of hemophilia

China recently approved its first gene therapy for the rare genetic disorder hemophilia B, drawing renewed attention to this often-overlooked condition.

Hemophilia is a rare but serious inherited disease. The constant risk of unexpected bleeding makes it a silent and persistent threat to many families.

Proactive carrier screening offers a powerful solution. By identifying genetic predispositions early, it supports timely interventions, informed family planning, and more personalized medical care.

Mutations Trigger Hemophilia

Hemophilia results from insufficient clotting factors—factor VIII (F8) in Hemophilia A or factor IX (F9) in Hemophilia B. Inherited in an X-linked recessive pattern, the mutated genes reside on the X chromosome.

Males with one X chromosome are affected if their X carries the mutation, while females typically remain asymptomatic carriers (though rare symptoms may occur if X-inactivation silences the healthy X). Fathers cannot pass the condition to sons, as males inherit the Y chromosome from their father.

Traditional detection methods, like clotting factor tests, often miss female carriers who may retain normal clotting levels. While most cases are inherited, one-third arise spontaneously from new genetic mutations, shows the unpredictability of the disease and the critical need for genetic screening to identify carriers and silent risks.

Proactive Approach for Potential Risks

A study published in Blood Advances in Oct. 2024, emphasizes the importance of updating family pedigrees and proactively identifying carriers. Conducted at a hemophilia treatment center in Brussels, the study reviewed medical records and genetic data to identify women who were either obligate or confirmed carriers.

Among the 900 women evaluated, more than half were genetically confirmed as carriers, and dozens were found to have mild hemophilia themselves—information that would have remained hidden without genetic testing. These findings reinforce the critical role of genetic screening in enabling timely diagnosis, guiding appropriate care, and preventing serious complications.

Proactive genetic screening is not only about risk detection—it's about empowerment. For women with a family history of hemophilia, BGI Genomics' VISTA™ Carrier Screening, powered by next-generation sequencing, offers a clear pathway to understanding their genetic status.

The genetic profile is important during key life moments, such as planning a pregnancy or preparing for surgery. It ensures that medical teams are equipped with the information needed to manage bleeding risks effectively and safely. Furthermore, it helps identify at-risk family members, allowing for coordinated care and genetic counseling across generations.

Importantly, even as advanced treatments like gene therapy emerge, the hereditary nature of hemophilia remains unchanged. The need for early identification and long-term management continues.

Carrier Screening for Future Generations

Researchers of the proactive carrier screening study suggests that girls who undergo clotting tests in childhood may still require genetic testing as adults. Identified carriers—particularly those with abnormal bleeding—should be followed closely by hematology specialists, not only for their own health but also to safeguard the well-being of future generations.

As hemophilia remains a lifelong condition with genetic roots, the most powerful defense is knowledge. Choosing to undergo carrier screening is not just a medical decision; it is a proactive, compassionate act that can protect families for generations to come. With solutions like BGI Genomics'  VISTA™ Carrier Screening, we now have the means to uncover the silent risk—and take confident steps toward a healthier, more informed future.

About VISTA™ Carrier Screening

VISTA™ Carrier Screening uses Next Generation Sequencing (NGS) technology to identify individuals or couples at risk of passing on a genetic condition to their child, offering multiple panel options (Mini, Targeted, & 1200+). The latest 1200+ panel product can detect more than 1200 genetic disorders.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.