Groundbreaking sickle cell disease treatment approved for English NHS

Abiola DennisFebruary 4, 2025

5 minutes read

Sickle cell anaemia is a genetic blood disorder characterised by the production of an abnormal haemoglobin, known as haemoglobin S. Sickle cell disease changes the shape of blood cells into a crescent (or the shape of a sickle), hindering blood flow. This condition leads to the distortion of red blood cells into a sickle or crescent shape, which can cause various health complications. This blood disorder affects individuals of African descent, but it is also found in people from other ethnic backgrounds.

Apart from afflicting individuals of African descent, the disorder also affects people of Mediterranean – countries around the Mediterranean Sea, such as Greece, Italy, and Turkey. People of Middle Eastern descent, including parts of Saudi Arabia, and other Gulf countries, are also at risk.

Sickle Cell anaemia also afflicts people from the Caribbean, particularly those with African ancestry.

Sickle cell anaemia is caused by a mutation in the HBB gene, which provides instructions for making the beta-globin subunit of haemoglobin. The disorder follows an autosomal recessive inheritance pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the disease. If a person inherits only one mutated gene, they are considered a carrier (sickle cell trait) but typically do not exhibit symptoms.

Symptoms of sickle cell anemia can vary in severity and may include:

Anaemia: Due to the rapid destruction of sickle-shaped red blood cells, individuals often experience fatigue, weakness, and pallor.

Pain crises: Sudden episodes of severe pain, known as vaso-occlusive crises, occur when sickle-shaped cells block blood flow in small blood vessels. These episodes can affect various parts of the body, including the chest, abdomen, and joints.

Swelling: Painful swelling in the hands and feet, known as dactylitis, can occur in infants and young children.

Frequent infections: Sickle cells can damage the spleen, increasing susceptibility to infections, particularly from encapsulated bacteria.

Delayed growth: Children with sickle cell anaemia may experience delayed growth and puberty due to chronic anaemia.

Vision problems: Blockages in the blood vessels of the eyes can lead to vision issues.

Sickle cell anaemia can lead to several serious complications, including:

Acute chest syndrome: A potentially life-threatening condition characterised by chest pain, fever, and difficulty breathing caused by lung infections or blocked blood vessels in the lungs.

Stroke: Blockages in blood flow to the brain can result in stroke, particularly in children and adolescents with the disease.

Organ damage: Chronic reduced blood flow can lead to damage in organs such as the kidneys, liver, and spleen.

Leg ulcers: Poor circulation can result in painful ulcers on the legs.

Sickle cell anaemia is typically diagnosed through blood tests, including:

Haemoglobin electrophoresis: This test identifies different types of haemoglobin and can confirm the presence of haemoglobin S.

Newborn screening: Many countries routinely screen newborns for sickle cell disease as part of standard health checks.

Pain management: Over-the-counter pain relievers or prescription medications may be used to manage pain crises.

Hydroxyurea: This medication can help reduce the frequency of pain crises and acute chest syndrome by increasing fetal haemoglobin levels, which helps prevent sickling.

Blood transfusions: Regular blood transfusions can help reduce anaemia and the risk of stroke, especially in children.

Folic acid supplements: These can help support red blood cell production.

Bone marrow or stem cell transplant: In some cases, a transplant may offer a potential cure, especially if performed in childhood.

Preventive measures: Vaccinations and antibiotics are often recommended to reduce the risk of infections. Individuals with sickle cell anaemia can benefit from lifestyle changes, including staying hydrated, avoiding extreme temperatures, and managing stress. Regular medical check-ups and monitoring are essential to address complications early.

This breakthrough in the treatment of the disease comes as a great relief to many sufferers of the ailment, especially, when a lot of resources have been deployed in the past in drug discovery. Clinical trials find a one-time gene therapy ECA-CEO offers a functional cure in 95 per cent of patients.

The Guardian UK newspaper of January 31, 2025, stated, “A groundbreaking £1.65m treatment offering a potential cure for people in England living with sickle cell disease has been approved for use on the NHS, the medicine watchdog has announced.”

Campaigners welcomed news of the approval of the one-time gene therapy, known as exagamglogene autotemcel, or exa-cel, which edits the faulty gene in patient’s own stem cells.

The NHS set that 50 patients, older children and adults with severe forms of the disease, who are suitable for a stem cell transplant but without a matched donor, will receive the cutting-edge treatment annually.

Clinical trials for exa-cel have indicated that the therapy can stop painful sickle cell crises, which occur when blood vessels become blocked, with researchers finding that there was a “functional cure” in 96.6 per cent of participants who received the treatment”.

The newspaper noted, “Toby Bakare, 35, from South London, who has sickle cell disease but received a stem cell transplant, said: “It is a great day, so many people living with sickle cell disease will now have access to treatment that gets rid of pain [that] is a blight on your life. I am lucky I had a sister who was in a match.”

The Director of the National Healthcare Inequalities Improvement Programme at NHS England, Prof Bola Owolabi, said: “This represents a monumental step forward in the treatment of people with sickle cell disorder, which is a condition that mostly affects people of Black African and Black Caribbean heritage. This groundbreaking therapy, available on the NHS, represents a very real prospect of a cure for this devastating disorder.

Also, the Chief Executive of the Sickle Cell Society, John James, said: “We are absolutely thrilled to see this groundbreaking gene therapy treatment available on the NHS from today. The significance of this milestone for the sickle cell community cannot be understated.”

Now coming back to how sickle cell disorder could be tackled in Nigeria. It is essential to acknowledge the unwavering dedication and perseverance of Prof. Olu Akinyanju, a globally recognised haematologist and the founder and chairman of the Sickle Cell Foundation of Nigeria. In a recent article in Pharmanews, it was noted that “any discussion about the management of sickle cell disease in Nigeria and Africa would be incomplete without mentioning Professor Akinyanju”. He played a pivotal role in establishing the National Sickle Cell Centre in Lagos.

With advancements in the treatment of sickle cell disorder emerging from England, it is crucial for both the public and private sectors in Nigeria—the country with the largest population of Black individuals—to enhance their collaborative efforts in supporting the National Sickle Cell Centre, led by Prof. Akinyanju. This partnership is vital for securing access to some of the medications already available through the NHS in England, aimed at reducing the pain and suffering of those affected by this condition.