Learning Hub
Sign up to our newsletter
20 June 2022
World Sickle Cell Awareness Day, 19 June, is observed annually to increase public knowledge and understanding of Sickle Cell Disease (SCD). To mark this day, Comms Officer Henry Lockyer spoke to King’s Health Partners (KHP) Haematology to find out more about SCD and how the Partnership is improving care for patients with this disease.
Affecting millions of people worldwide, SCD is one of the most common genetic blood diseases in the world. It predominates in people with African or Caribbean background and people of Hispanic, Mediterranean and Middle Eastern heritage can also inherit the faulty gene. The reality for those with SCD is limited treatment options, slow progress towards a cure, and healthcare inequity. Many patients may face a lifetime of pain and chronic health problems, with many dying prematurely.
In developed nations, sickle care is entering a new era, with recent availability of novel treatments (Voxelotor and Crizanlizumab) and the prospect of a cure for eligible patients with reduced intensity matched sibling stem cell transplantation now available on the NHS. An array of novel treatments including haplo-identical stem cell transplantation are also either underway or in trial set up.
What is SCD?
SCD is caused by a single misspelling in the DNA instructions for haemoglobin, a protein vital for carrying oxygen in the blood.
As a result of this misspelling, individuals with SCD experience lifelong complications including anaemia, infections, stroke, tissue damage, organ failure, and intense painful episodes.
The disease’s debilitating symptoms and the complex treatment needs of people living with sickle cell disease can limit their education, career opportunities, and quality and length of life.
Challenges of living with SCD
Managing symptoms of SCD can be very challenging and affect many different aspects of a patient’s life. The video below describes the challenges they face and how KHP Haematology is working to eliminate the burden of this debilitating disease:
You can also find out more on the South Thames Sickle Cell and Thalassaemia Network YouTube channel.
Latest research and innovation
Dr Subarna Chakravorty, Consultant Paediatric Haematologist, King’s College Hospital NHS Foundation Trust (KCH), explains how KHP Haematology is improving the care of patients with SCD:
In this year’s World Sickle Cell Day, there is a lot to celebrate and a lot to reflect upon. At KHP Haematology, we provide high quality care resulting in some of the best clinical outcomes for patients nationally. We are also part of the worldwide efforts in the search of treatments that reduce the burden of disease, prolong life, and bring cure to those with sickle cell disease. Many clinical trials are in place throughout our network, with active participation by patients of all ages. Our clinicians and scientists are also engaged in world-class scientific research in the discovery of disease mechanisms that will lead to better treatments and cure. While the pandemic has brought unimaginable burden to those suffering from sickle cell disease, we are also delighted to note the high uptake of COVID-19 vaccination among patients in our region. Taking advantage of newer online technologies, our patient support groups and peer education programmes have reached wider audiences.
Despite such successes, we also must reflect on the enormous disparities in care provision experienced by patients with sickle cell disease, leading to unnecessary suffering and pain. A recent report by the All-Party Parliamentary Group on sickle cell disease has highlighted the lack of timely provision of pain relief, lack of joined up care among general and specialist providers, lack of knowledge about this condition among emergency care providers, and chronic lack of investment in services to improve care provision. These have been endemic problems in the NHS for decades. The report, available here, provides an excellent template for commissioners and trusts to use to improve support to their sickle cell services.
In KHP Haematology, we are determined to improve the quality of lives for our patients, continue to involve patients in developing better services, and work tirelessly to reduce suffering and bring about cure.
Professor John Strouboulis, Chair in Molecular Erythropoiesis, School of Cancer & Pharmaceutical Sciences leads the sickle cell research team.* He added:
In theory, SCD is a simple genetic disorder caused by a very small change in the part of our DNA that contains the instructions to make haemoglobin. It is therefore a prime target for the latest advanced therapies that allow correction of or compensation for genetic mistakes. Leveraging our existing clinical and research expertise, with additional investment via the planned new Sickle Cell Centre of Excellence, we could make huge leaps forward in a relatively short time frame.
Through cell and gene editing the research team hopes to bring ground-breaking new therapies to patients via clinical trials within five years, with three targets in sight.
Firstly - fixing the faulty gene that causes SCD by rewriting or replacing the DNA sequence to read as it would in a healthy person, restoring normal haemoglobin production.
Secondly on restarting fetal haemoglobin production. Our bodies usually stop producing fetal haemoglobin in the first few months of life and switch to producing an adult form. Only the adult form is affected by SCD. By flipping the genetic switch to turn fetal haemoglobin production back on, we can stimulate healthy red blood cell production to significantly reduce the complications of SCD.
Finally to be curing SCD as early as possible. Delivering gene or cell therapy as early as possible in life would spare paediatric patients from ever developing devastating complications of the disease and accruing irreversible organ damage.
We are also working on better understanding specific aspects of the pathophysiology of SCD, such as red cell dehydration as the first step in sickling, or inefficient production of red cells in SCD patients, with the aim of developing therapies that will prevent them.
Our ultimate goal is to translate discoveries to also benefit low-income countries, where the disorder is most prevalent. This research could completely transform the lives of individuals and families who are currently experiencing devastating loss, pain, and other physical, mental health and social implications.
*More information on the team and its research can be found here: https://www.kcl.ac.uk/research/red-cell-haematology
Visit our website to learn how KHP Haematology is harnessing collaboration between academic and clinical experts to deliver the best possible care.
