Hemophilia is a bleeding disorder which is usually inherited. It results from a genetic mutation or alteration in one of the genes that provide instructions for producing clotting factor proteins essential for forming blood clots. Individuals with hemophilia suffer from spontaneous bleeding as well as excessive bleeding following injury or surgery.
The severity of hemophilia is determined by the amount of clotting factor present, with lower levels resulting in a higher likelihood of bleeding and potentially serious health complications. Individuals with a severe form of hemophilia are at high risk of experiencing internal bleeding, particularly in their knees, ankles, and elbows, which can cause damage to organs and tissues and pose a life-threatening risk.
Hemophilia can be treated with preventative or on-demand approaches. Most cases of hemophilia are severe and require preventative treatment, which involves regular clotting factor injections to prevent bleeding and joint/muscle damage. Patients receiving preventative treatment require ongoing monitoring and usually continue treatment for life. On-demand treatment is used to treat prolonged bleeding as needed.
In the global effort to eradicate hemophilia, innovative treatments based on genetic engineering are emerging. Israel has gained recognition for early detection of hemophilia, and Sheba is breaking new ground in the treatment of the disease.
In a groundbreaking study in the fight against hemophilia, Sheba researchers played a pivotal role in replacing the defective gene responsible for the disorder’s severe effects.
The experiment, which included 50 medical centers across 30 countries, and was conducted by BioMarin, involved 134 elderly patients who were suffering from hemophilia, including five individuals from Israel. The findings, published in The New England Journal of Medicine, reveal that researchers were able to successfully insert a healthy gene into the liver of the participants using a virus.
At the time of the trial, patients had to undergo repeated transfusions to replace the missing factor in their blood, which was administered frequently to prevent severe bleeding and resulting disability. According to Prof. Gili Kenet, director of the Israel National Hemophilia Center and Thrombosis Institute at Sheba, “We were able to cure a person suffering from a serious genetic disease within just a few months.”
According to Prof. Kenet, all Israeli participants were cured of the disease, exhibiting normal blood clotting and no signs of bleeding. Although six patients still experienced moderate hemophilia, their bleeding had significantly decreased. She emphasized the significance of the experiment, noting that what was once considered science fiction is now a reality.
The successful study offers new hope in the fight against the disease that affects over 400,000 individuals worldwide, and could potentially reduce the need for frequent transfusions and prevent severe bleeding and disability.
Published June 5 2023, Sheba Global