Abhay Singh
The NHS is set to offer the first gene-editing therapy as a potential cure for beta thalassaemia, allowing stem cells to be extracted, reprogrammed, and returned to the patient’s body, potentially reducing the need for blood transfusions every three to five weeks for life.
It is a genetic disease
Beta thalassaemia is a genetic disease causing individuals to lack sufficient hemoglobin, a protein in red blood cells that transports oxygen.
This disease, passed down through families, results from defects in the body’s manufacturing instructions, leading to severe fatigue, weakness, and reduced life expectancy.
Kirthana Balachandran, 21, was diagnosed at the age of three months. She suffers from muscle and back pain, as well as palpitations when walking uphill.
She said “The idea of depending on transfusions for quite literally the rest of my life is daunting, I constantly worry about the future,”
Meanwhile, Gene editing is intended to be a one-time process.
It relies on the fact your body makes different types of hemoglobin before and after birth
The technology uses a tool called Crispr, which won the 2020 Nobel Prize for Chemistry, which is a satnav connected to scissors. It targets specific DNA sections and performs editing.
This technology, despite appearing to repair genetic defects, actually relies on the body’s ability to produce different types of hemoglobin before and after birth.
In the womb,our bodies use fetal hemoglobin to extract oxygen from our mother’s bloodstream. After birth, we produce adult hemoglobin, which is affected by beta thalassaemia.
Therapy disables the switch, BCL11A, allowing the adult body to produce fetal hemoglobin again, restoring normal blood oxygen levels.
Stem cells from bone marrow are harvested for red blood cell production and sent to a lab for genetic switch targeting. Chemotherapy is used to kill old stem cells that produced broken hemoglobin before new ones can be implanted. This painful process ensures the successful transplantation process.
Abdul-Qadeer Akhtar, 28, from Hemel Hempstead, participated in clinical trials in 2020 and reported a “challenging” and “tough” treatment, but has since shown improved health and increased activity. He said “[I] have even taken up boxing, I can travel more freely now, which is fantastic, I’m eager to embrace life to the fullest.”
Out of 52 patients treated with gene therapy, 49 did not require another blood transfusion for at least a year of monitoring.
The new approach’s long-term effects are unknown, but Kirthana believes it could be a life-changing treatment, eliminating the need for three-weekly transfusions.
NHS England paying less than the official price of £1.6m per patient
The National Institute of Health and Care Excellence has approved a therapy for a potential cure, resulting in NHS England paying less than the official price of £1.6m per patient. The therapy is expected to be available to 460 people over 12 and will be offered at seven specialist centers within weeks.
NHS Chief Executive, Amanda Pritchard, said “This is a historic moment for people living with beta thalassaemia with a potential cure for those facing this debilitating disorder now available on the NHS.”
Beta thalassemia primarily affects Mediterranean, south Asian, south-east Asian, and Middle Eastern individuals. Previously, stem cell transplants were the only viable alternative to blood transfusions due to donor tissue matching requirements.
Vertex’s Casgevy is the first approved therapy using Crispr-technology.
The UK Thalassaemia Society’s executive director, Romaine Maharaj, stated “we stand on the brink of a revolutionary breakthrough” and “it is a beacon of hope”.
Talks are still ongoing to determine if sickle cell anaemia, another hereditary condition affecting hemoglobin, can benefit from the same treatment on the NHS.
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