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A woman who received groundbreaking gene-editing treatment NHS She is optimistic that by 2026 her serious blood disease will be cured.
Kavita Mehta, 36, from Londonsuffering from beta thalassemiaa genetic disorder that prevents her body from producing enough hemoglobin – an important protein in red blood cells responsible for oxygen transport.
The genetic disease requires patients to receive blood transfusions every three to five weeks, significantly shortening their life expectancy.
Ms. Mehta has relied on blood transfusions and medications throughout her life to survive.
But now she has become one of the first patients in southern England to receive the NHS gene-editing treatment Casgevy.
She underwent treatment in November and is now recovering at home — and all signs suggest she may be experiencing healing.
Ms. Mehta, who works as a housekeeping supervisor in the hotel industry, was diagnosed with beta thalassemia when she was one month old.
“We were living in Kenya,” she explains. “My grandmother noticed I looked unusually pale and my mum took me to hospital and that’s when they found out.
“Both my parents were carriers and so was my brother. I started transfusions immediately. I don’t remember how many bags I needed, but from the beginning it was every six weeks, never stopped. This went on for many years.
“When I was five years old, I started iron chelation (a treatment that removes excess iron from the blood caused by transfusions). That was the hardest part.
“The needles back then were terrible – giant butterfly needles – and my poor mum had to give me injections every night.
“In the past, iron chelation was a slow infusion for 10 hours, five nights a week.
“It defined everything – my weekends, mornings at school, even my evenings growing up.”
Ms. Mehta also experienced a lifetime of fatigue and pain in the week leading up to the transfusion, which may now be a thing of the past thanks to Kasgivi.
“When you need more and more blood transfusions, you feel it,” she said.
“I was out of breath, had chest tightness, had a headache and even had pain in my lower back.
“It’s gotten better as I’ve gotten older, but it used to hit me hard as a kid and in my 20s. The week before the transfusion, I avoided going to the gym because I simply couldn’t cope. I would slow down until I got back to the hospital to refuel again.”
With Casgevy, blood stem cells are removed from the patient and edited in the lab, then returned to the patient via infusion.
The technology relies on a tool called Crispr, an award-winning method of targeting DNA and editing it.
Soon after birth, fetal hemoglobin begins to be replaced by adult hemoglobin.
But for people with beta thalassemia, their bodies don’t produce enough adult hemoglobin.
Casgevy overcomes this problem by turning on the production of fetal hemoglobin, which allows the body to overcome beta thalassemia and provide a chance of cure.
Before treatment, patients receive intensive chemotherapy.
They then need to stay in the hospital for about six weeks while the gene-edited stem cells embed and multiply.
Ms Mehta is recovering at home after receiving Casgevy treatment at University College London Hospital (UCLH) in November.
“I feel great now, I can do housework again and move around,” she told the Press Association.
“It looked really good. Even when I was in the hospital, things looked really good.
“My fetal hemoglobin remained stable and increased – something that apparently had never happened before.
“So in the doctor’s opinion, it’s working. It’s unbelievable and crazy.”
“Honestly, I always thought these scientists who discovered this whole process were geniuses.
“It’s incredible to change a group of people’s lives.
“I’m on the NHS and I’m one of the first in the south so I know I’m lucky but I wish more people would have access to Casgevy.”
Ms. Mehta said she was looking forward to being able to travel more and live a normal life.
“I would love to travel for more than four weeks, that would be awesome,” she said.
“I’ve heard some people say that your energy levels increase tenfold and that after three or two to three weeks you never feel that slump (like before) again, which to me is very exciting.
“You have to be transfusion-free for a year to be cured, but that’s my hope.”
Ms. Mehta and her unnamed husband also underwent fertility treatment using frozen embryos in the hope of starting a family in the future. The chemotherapy she needed to undergo before Casgevy affected her fertility.
The couple were told to wait two years before getting pregnant, but Ms Mehta said: “Because my blood was so good, they said in a year’s time, if my blood was still the same, they saw no reason not to start the pregnancy. So it’s very exciting.”
She added: “All I’ve ever known is a life of regular blood transfusions.
“I can’t believe the doctors have seen signs that I am now able to produce my own red blood cells.
“I can’t tell you how much this means to me and my family, having to watch me go through this and take care of me.
“Above all, I’m delighted that this drug is available on the NHS and can help patients much younger than me live transfusion-independent lives.”
In international clinical trials, Casgevy has shown impressive results, keeping 93% of patients transfusion-free for at least a year.
Dr Ben Carpenter, a consultant hematologist at UCLH who has been treating Ms Mehta, told PA: “We are pleased with how things are progressing.
“It has been more than two weeks since Kavita’s last red blood cell transfusion and her levels continue to rise.
“For the first time since she was born, we now see her own bone marrow producing normal red blood cells.”
He described Casgevy’s success rate as “fantastic”, adding: “This is really a game-changer for the transfusion-dependent thalassemia community.”
He said the therapy was “a perfect solution for these conditions”, adding: “It does appear to be a treatment”.