Insights from a renowned researcher on World Hemophilia Day

April 17 marks World Hemophilia Day, an annual observance to raise awareness of the rare bleeding disorder. A study published by the American College of Physicians in the Annals of Internal Medicine re-evaluated the prevalence of the disease. The study, led by Alfonso Iorio, professor and chair of the Department of Health Research Methods, Evidence, and Impact (HEI) at McMaster University, unveiled a higher prevalence than previously believed. This highlights the necessity for heightened awareness, improved access to treatment options, and increased medical representation for both those affected by hemophilia and their families.

Understanding hemophilia

Both Hemophilia A and B are extremely rare bleeding disorders that affect the body’s ability to clot blood properly, but they’re caused by different gene mutations. Hemophilia A is caused by a mutation in the F8 gene, whereas hemophilia B is caused by a mutation in the F9 gene. Both types of hemophilia can lead to prolonged bleeding episodes, especially into joints and muscles, and can be life-threatening.

Exploring treatment options

Iorio has dedicated his career to studying the rare bleeding disorder. Over the past 30 years, he has designed and led studies recognized worldwide for their significant contributions to our understanding of hemophilia and treatment options.

The most effective way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. Recent innovations have shown promising outcomes, significantly improving patients’ quality of life.

Innovations in treatment

In Jan. 2023, a global study involving McMaster University researchers was published in The New England Journal of Medicine that trialed a potential new treatment for those living with hemophilia A.

The study revealed that patients with hemophilia A, treated with only one injection per week of the innovative therapy called efanesoctocog alpha, experienced significant improvements in outcomes and quality of life compared to their previous treatment regimens.

“The research infrastructure and leadership we built at McMaster as a leader for the Canadian hemophilia data collection network allowed us to attract international clinical studies on innovative treatments, such as the efanesoctocog alfa trial and gene therapy,” said Iorio.

In Jan. 2024, Canada became the first country in the world to approve the use of gene therapy for hemophilia B, with two treatment options (Beqvez and Hemgenix) approved by Health Canada. The one-time infusion enables patients’ bodies to produce the gene encoding factor IX, which is missing in patients with hemophilia B.

Looking to the future

“Advancements in hemophilia research and treatment hold tremendous promise for improving patients’ quality of life. From clotting factor replacements to gene therapies, these innovations offer hope. These developments have the potential to significantly reduce bleeding episodes and enhance quality of life,” responded Iorio when asked about future advancements in hemophilia research and treatment.

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