Patients with severe inherited blood disorders will be offered stem cell transplants on the NHS that could cure their condition and help avoid life-long blood transfusions.
Thalassaemia is a rare disorder that affects the production of haemoglobin in the blood, leading to severe anaemia and debilitating tiredness, with patients needing to have blood transfusions every two to four weeks to survive - which has a major impact on their quality of life.
Now, curative stem cell transplants will be funded by the NHS for the first time for adult patients with thalassaemia following new guidance.
The procedure - called allogeneic haematopoietic stem cell transplant (Allo-HSCT) - involves replacing the bone marrow stem cells of a patient with ones from a matched sibling donor. Stem cells are given to the patient via an intravenous infusion which helps to re-establish healthy blood cell production.
Previously, this type of treatment was offered only to children because of the potential risk of complications among adults.
But now, following advances in transplant treatment such as better medications to manage a patient before, during and after transplantation, new guidance from NHS England's Clinical Priorities Advisory Group has recommended the treatment be made available for the first time to eligible thalassaemia patients over the age of 18.
It is estimated that there are more than 600 adults across the UK who have transfusion-dependent thalassaemia - a severe form of the condition, which was previously fatal in childhood, many of whom could be eligible for the stem cell transplant. Overall, there are 2281 people with thalassaemia registered on the National Haemoglobinopathy Registry in the UK, including 1332 over the age of 18.
Thalassaemia is more prevalent amongst Southern European, Middle Eastern, South American, Caribbean, Asian and South East Asian communities in the UK, and providing access to this treatment will play a role in reducing health inequalities for these populations.
Professor Sir Stephen Powis, NHS England Medical Director, said: “Expanding the availability of stem cell transplants to adults living with thalassaemia is another vital step forward to help change the lives of those living with this deeply debilitating condition.
“Thalassaemia can be an incredibly painful condition with difficult symptoms for patients as well as the impact on their heart, liver and bones, and it's fantastic that offering this evidence-based curative stem cell treatment can now offer new hope to help significantly improve patients' quality of life”.
Sonal Mistry, 38, from Birmingham was diagnosed with thalassaemia as a baby and received a stem cell transplant in 1991, when she was five years old. Sonal had received regular blood transfusions to manage her condition as a young child but was cured when she received the donor cells from her younger sister, Krishna.
After initially suffering complications from the transplant, including permanent scarring, Sonal now lives a healthy life, free of disease, only requiring annual blood tests to check in on her condition.
Sonal said: “I haven't been on any medication since I was 15 years old.
“All my test results came back as normal, and I now live a healthy life. I'm married and work as a stem cell scientist. It's my way of giving back, by doing for someone else what somebody did for me”.
As well as working as a stem cell scientist, Sonal previously worked in a hospital that specialises in treating patients with thalassaemia and sickle cell disease, giving her firsthand experience of the benefits of her treatment.
She said: “I've met a lot of patients with serious heart and liver complications from their condition.
“If it wasn't for the transplant, I'd probably still be having blood transfusions and regular hospital appointments.
“I'm so grateful to be on the other side of my journey, and it's so nice to now be helping other people. Today's news is really exciting, and I hope that for adults offered transplants, it will be life changing for them, like it was for me”.
Kirthana Balachandran, a 20-year-old medical student from West London, was diagnosed with thalassaemia when she was three months old. Although she previously had the potential to receive a stem cell transplant as a child and teenager, unfortunately no matched donors were found, meaning Kirthana still requires blood transfusions every three weeks and medication to manage her condition.
Kirthana said: “My condition affects me a lot.
“Sometimes I have muscle pain, back pain and I can even feel breathless or have palpitations when I walk uphill. It just depends on your haemoglobin level. When it's low, I feel so tired and it can affect me at the most inconvenient times, like when I have exams. But when my levels are good, I don't really feel any symptoms at all”.
For Kirthana, the possibility of a stem cell donation in adulthood gives her an option to cure her condition, that previously wouldn't have been available to her.
She said: “When I was younger, we looked for a donor from my family, but no one was a match and the possibility just faded away. With today's news, if we were able to find a donor, that would be an amazing possibility, as it could really change my life. I would never need to go for a blood transfusion again for my condition and I wouldn't have to worry about the side effects from transfusions or my health in future either.
“It's amazing that they've made this treatment option available for adults, because it means we can still have a chance of finding a donor, even at an older age”.
Romaine Maharaj, UK Thalassaemia Society Executive Director, said: “We celebrate the long-awaited approval of Allo-HSCT for adults with transfusion dependent thalassaemia. This remarkable milestone offers hope to adults with donor matches who were previously excluded from accessing a curative option.
“While it is a huge step in the right direction and a monumental win for thalassaemia, we also eagerly await the much-needed approval for gene therapies. Having both curative options available will grant more patients the chance to live transfusion-independent lives, enhancing both their quality of life and life expectancy”.
Earlier this year, the NHS became the first healthcare system in the world to provide blood group genotyping for people with thalassaemia and sickle cell disease. This is a detailed DNA analysis of each patient's blood group to match more accurately those in need of transfusions to donated blood.
The landmark new programme, delivered in partnership by NHS England and NHS Blood and Transplant, will help ensure patients receive the best treatment for them, reducing the risk/impact of reactions to donor blood and the development of antibodies that attack the donor blood cells.