A summary of recent discoveries advancing the understanding and treatment of hemophilia

Hemophilia is a rare bleeding disorder that undermines blood's regular clotting mechanism. There are two types of hemophilia, known as hemophilia A and hemophilia B, which are caused by a shortage or lack of different clotting factors. Since clotting factors are responsible for putting a stop to bleeding, individuals with hemophilia can bleed longer than normal after an injury, experience bleeding from minor injuries, spontaneous bleeding episodes, and in severe cases, bleeding into joints and muscles causing pain and damage.  

• Chapter 17, Hemostatic disorders and hereditary angioedema, of Canadian Blood Services’ Clinical Guide to Transfusion provides information for health-care professionals about management and treatment of bleeding disorders, including hemophilia, in Canada.  

Scientists and researchers play a pivotal role in hemophilia research that informs treatment in Canada. From 2017 to 2023, Canadian Blood Services supported the McMaster Centre for Transfusion Research (MCTR), now named The Michael G. DeGroote Centre for Transfusion Research, through the Transfusion Medicine Research Program Support Award on a number of research areas including hemostasis and bleeding disorders. The following is a summary of the latest research conducted through this program which have the potential to significantly impact the lives of people living with hemophilia: 

• Rondaptivon pegol as a treatment for hemophilia A: In an article published March 2023 in Blood, the peer-reviewed journal of the American Society of Hematology, a team of researchers describe how they are collaborating to study use of a subcutaneous (under-the-skin) treatment called rondaptivon pegol to better understand its safety and effect on increasing levels of clotting factors in the blood. The results of this study are described as providing “a context for current standards” of clotting factor replacement therapies and contributing to understanding of rondaptivon pegol as a “promising treatment for several patient groups”.  
• A review of the literature on prophylactic treatment for non-severe hemophilia: Researchers are exploring the benefits of early preventive treatment for people with non-severe hemophilia A and B. This could potentially improve their quality of life by reducing future bleeding complications. A team of researchers published a review in Hemophilia, the official journal of the World Federation of Hemophilia, which looked at available literature and long-term outcomes to help inform clinical decision-making.  
• New treatment for children with hemophilia A: This clinical trial, known as the LEOPOLD kids trial that was published in the peer-reviewed journal Thrombosis and Haemostasias in 2023, investigated the effectiveness and safety of a new drug for preventing and treating bleeding episodes in children with severe hemophilia A. While the development of inhibitors – antibodies that neutralize the function of infused drugs– was noted in the study results for some patients, the research does suggest potential benefits for this patient group. Clinical trials like this can offer promising insights into new treatment methods for children with severe hemophilia. 
• Understanding aging and hemophilia: This research focused on comparing risk of age-related health conditions like heart disease and stroke in people with hemophilia to that of the general population by reviewing existing literature in what is called a scoping review. This information is crucial for comprehensive care planning for individuals with hemophilia as improvements in treatment contribute to increased life expectancies. The publication, which appeared in the open-access journal Research and practice in thrombosis and haemostasis, called for further studies to continue to look into this research area in the future. 

The research of Canadian Blood Services senior scientist Dr. Heyu Ni has also examined how to address complications associated with hemophilia. His research explores a new approach using modified platelets to potentially reduce immune responses in patients receiving blood clotting factor replacement therapy. This research has applications for treating hemophilia and other immune-related conditions by revealing potential avenues for addressing immune responses in clotting factor replacement therapy. 

From exploring innovative therapies to investigating the benefits of prophylactic treatment for non-severe cases, studies like these represent advancements in the understanding and treatment of hemophilia that can improve outcomes and quality of life for people living with hemophilia. Overall, these findings demonstrate the importance of research supported by Canadian Blood Services that can pave the way for further advancements for the hemophilia community. 

Canadian Blood Services – Driving world-class innovation 

Through discovery, development and applied research, Canadian Blood Services drives world-class innovation in blood transfusion, cellular therapy and transplantation—bringing clarity and insight to an increasingly complex healthcare future. Our dedicated research team and extended network of partners engage in exploratory and applied research to create new knowledge, inform and enhance best practices, contribute to the development of new services and technologies, and build capacity through training and collaboration. Find out more about our research impact.  

The opinions reflected in this post are those of the author and do not necessarily reflect the opinions of Canadian Blood Services nor do they reflect the views of Health Canada or any other funding agency.