Groundbreaking treatment for haemophilia administered in Wales for first time

A revolutionary gene therapy for haemophilia has been used in Wales for the first time.

The groundbreaking treatment was delivered at the Cardiff Haemophilia Centre, based at the University Hospital of Wales, marking a major breakthrough for patients living with haemophilia B, a rare inherited bleeding disorder.

Haemophilia affects the blood’s ability to clot properly due to a missing clotting protein. The condition, which predominantly affects men, can lead to spontaneous and potentially life-threatening bleeding into joints, muscles and internal organs.

Until now, people with severe haemophilia have relied on lifelong intravenous infusions of clotting factor, often several times a week, placing a significant physical and emotional burden on patients and families.

The first patient in Wales has now received Hemgenix (etranacogene dezaparvovec), a one-off gene therapy approved for adults with severe and moderately severe haemophilia B.

The treatment works by delivering a functioning copy of the gene needed to produce Factor IX, enabling the body to make its own clotting protein.

Cardiff has been designated as Wales’ national hub for haemophilia gene therapy, meaning patients from across the country can travel to the capital for the single infusion before continuing follow-up care closer to home, supported by local haemophilia teams in coordination with Cardiff specialists.

Consultant haematologist Dr Samya Gwen Obaji, Adult Lead and Co-Director of the Cardiff Haemophilia Centre, described the development as “life-changing” for some patients.

“This represents a significant step forward in how we manage haemophilia B,” she said. “Delivering the first dose in Wales reflects not only advances in treatment, but the strength of collaboration across NHS Wales.”

Nigel, the first Welsh patient to receive the therapy, was diagnosed with haemophilia at just 11 months old. He said the treatment marked the end of weekly injections he had relied on for most of his life.

“This is pioneering treatment,” he said. “It’s not a cure in the traditional sense, but it means my body can now produce Factor IX itself. Living with severe haemophilia may finally begin to look very different.”

Clotting levels

Gene therapy offers the possibility of long-term, near-normal clotting levels, reducing the risk of spontaneous bleeding and joint damage, and potentially removing the need for regular preventative treatment.

The delivery of Hemgenix in Wales has been supported by Advanced Therapies Wales and the NHS Wales Joint Commissioning Committee, helping build the clinical capacity needed for highly specialised treatments.

Suzanne Rankin, Chief Executive of Cardiff and Vale University Health Board, praised the teams involved, saying the achievement reflected “a shared mission to improve lives and advance care” for people living with rare conditions.