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Bye bye haemophilia B - 29th August 2022
British physicians claim to have found a 'transformational' protein therapy for treating haemophiliacs.
The revolutionary treatment rectifies the bleeding disorder, haemophilia B, caused by a genetic defect which hinders the blood's ability to coagulate, thereby leading to profuse bleeding. Following an injury or laceration to the skin, clotting factor IX, an essential protein, brings the bleeding to a halt. Individuals with haemophilia B lack sufficient levels of this vital enzyme.
Test subjects in a trial were inoculated with an engineered virus, administered to instruct the liver to manufacture the missing enzyme, factor IX. Making its way to the liver, the virus delivers the blueprints of the clotting factor IX protein, which jump-starts its production.
Given these medical advances, experts remain positive about the prospects for haemophiliacs in the coming years.
Having participated in the trial, Elliott Mason claims to now feel "completely normal" after suffering from this deadly and life limiting condition all his life, which meant he had spent his early years "anxious of getting hurt", and "wrapped" "in bubble wrap" by his teachers. Having the condition had restricted him from playing his dream sport, rugby.
In order to inhibit a fatal haemorrhage, Elliott would sometimes require regular factor IX injections. Nevertheless, whilst many haemophiliacs have to endure severe joint injury, due to excessive bleeding, Elliott was fortunate enough to remain in good health.
“We have a lot of young patients in excruciating agony and there's nothing we can do to reverse the joint damage," explains Prof Pratima Chowdary, from the Royal Free Hospital and University College London. According to the published findings in the New England Journal of Medicine, ninety percent of patients having the therapy could forgo their clotting factor IX injections altogether.
"We're very excited by the results," stated Prof Chowdary, noting the "transformational impact" a year on, post therapy, when suddenly people realised: "I don't need to worry about my haemophilia at all."
This recent trial is just one in a sequence of breakthroughs in treating both haemophilia A and B.
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