Akudo Amadiegwu explains why it is so important to contribute to research and conversations about Sickle Cell Disorder, Beta Thalassemia and blood related disorders, and why ongoing advocacy and public awareness matter so much.

I recently had the privilege to contribute and serve as an external reviewer for a short Parliamentary briefing, a POSTNote, on Sickle Cell Disorder and Beta Thalassemia.

The Parliamentary Office of Science and Technology (POST) produce such POSTNotes. It is an impartial research and knowledge exchange service based in the UK Parliament, providing cutting edge research, evidence, and expertise to members of both Houses of Parliament, covering emerging or complex science and social science topics.

Sickle Cell Disorder and Beta Thalassemia are inherited blood conditions that can cause severe pain and organ damage, which can lead to untimely death. I lost a relative to this debilitating condition, at the prime of his life and career as a broadcast journalist. His parents never recovered from this loss as his mother was witness to the excruciating pain inflicted by this condition.

Sickle Cell Disorder, also referred to as Sickle Cell Disease (SCD) and Beta Thalassemia (BT), are inherited blood conditions that reduce life expectancy and quality of life. These conditions are caused by mutations in a single gene affecting haemoglobin, the protein that carries oxygen in red blood cells. SCD leads to sickle-shaped cells that block blood vessels, causing severe pain and organ damage. These conditions disproportionately affect people of African, Caribbean, South Asian, Mediterranean and Middle Eastern backgrounds, about 20 million people globally. Around 17,500 people in the UK have SCD and 1,000 have BT with 250 cases every year.

Recent advancements have helped in the treatment of these conditions including gene and cell therapy. In 2023, the UK became the first country to approve exa-cel, a CRISPR-Cas9 gene-editing therapy for severe SCD and BT. CRISPR-Cas9 edits the patient’s own stem cells to reactivate fetal haemoglobin production, reducing symptoms and transfusion needs.

The one-off gene therapy, known as exagamglogene autotemcel (or ‘exa-cel’), was approved for use on the NHS in England from 31 January 2005 by the National Institute for Health and Care Excellence for older children and adults with a severe form of SCD. Clinical trials suggest exa-cel can stop painful and unpredictable sickle cell crises – the most common symptom of SCD – where blood vessels become blocked causing severe pain, with experts saying the therapy offers patients a chance of disease-free life. Researchers concluded there was a ‘functional cure’ in 96.6% of exa-cel trial participants that received it.

The challenge is that this comes at a very high cost. Gene therapy delivery requires specialist centres, trained staff and high-dose chemotherapy before treatment. Risks include infertility, infections and possible long-term cancer risk. The upfront cost of exa-cel is £1.65 million but the NHS has reportedly negotiated a cheaper more affordable deal.

It is also important to advocate and raise awareness about this condition as lack of knowledge has lead to the deaths of Tyrone Airey and 21 year Nathan Smith who both died in UK hospitals due to lack of awareness of this condition. This highlights the need for increased awareness and education for health and social care practitioners and the future workforce.

People with SCD will have inherited a copy of the sickle cell gene from both parents so there is also a need for awareness for the affected population as these conditions can be preventable. By contributing to research and discourse, and advocating for our service users, we can shine a light on this condition and potentially save lives.

Akudo Amadiegwu is a Senior Lecturer in Social Work, in the School of Social Work, Education, and Teacher Education.