Supporting innovative scientific research in Sickle Cell Disease (SCD)

Our commitment

At Novartis, we’re committed to helping to improve the quality of life of patients with SCD. We support innovative scientific research, and have a long heritage of working in haematological conditions. We work with both patient advocacy groups and healthcare professionals to provide patients with up-to-date information about advances in the treatment of SCD.

Download our Sickle Cell World Assessment Survey key findings infographic

Click here

What is SCD?

Sickle cell disease (SCD) is a complex, genetic blood disorder which is inherited from both parents.¹ It is estimated that there are 15,000 people with SCD in the UK.¹

SCD mainly affects people of African or African-Caribbean origin, however, the sickle gene is found in all ethnic groups.² Prevalence is increasing in the UK because of immigration into the country and new births.²

The most common symptoms of SCD include painful episodes (also called sickle cell crises or vaso-occlusive crises (VOCs)), anaemia, fatigue and increased risk of serious infections.³ Some people with SCD can also experience and strokes and complications affecting various parts of the body including lungs, eyes, kidneys, bones, and the heart and circulation.³

What causes SCD?

People affected by SCD are born with the condition due to a faulty gene being passed to them from their parents. This faulty gene affects the production of haemoglobin.⁴ Haemoglobin is the substance in red blood cells that is responsible for carrying oxygen around the body.¹ In SCD, red blood cells can become rigid and crescent or sickle shaped.⁵ Exactly why this mutation happens is complex and not very well understood.⁶

Being a carrier of sickle cell means that a person has one of the genes that causes SCD but is not affected by the condition themselves – this is also known as having the sickle cell trait.⁷

How is SCD diagnosed?

SCD can be detected during pregnancy or soon after using a simple blood test.⁸ A newborn screening programme for SCD is in place across the UK.⁹ The test screens for many conditions, including SCD.¹⁰

What are the main symptoms of SCD?

Anaemia is one of the most common sickle cell disease symptoms, which is where the haemoglobin in the blood is low.³ Sickle cell anaemia does not usually display many symptoms, but it can cause headaches, rapid heartbeat, dizziness and fainting.³

One debilitating symptom of SCD is sickle cell crisis, or vaso-occlusive crises (VOCs).^1,4 Sickling of red blood cells can result in cells getting stuck together, as well as increased adhesion to other blood cells and the blood vessel walls, causing blockages in the small blood vessels and triggering acute episodes of pain.^{4, 11}

The International Sickle Cell World Assessment Survey (SWAY)

In 2019, Novartis worked with patient groups to develop and conduct the International Sickle Cell World Assessment Survey (SWAY), a cross-sectional survey of 2,145 SCD patients and 365 healthcare professionals (HCPs) across 16 countries. Patients aged from six years were eligible to participate.

In the UK, 299 patients responded on questions exploring areas including treatment goals, symptom burden, and disease impact on day-to-day life.

Improving Quality of Life is the main treatment goal

Management of SCD involves education and support for patients, parents, carers and the wider family. It’s important to focus on reducing pain caused by VOC episodes, managing any ongoing symptoms and paying close attention to health and lifestyle in order to stay healthy.¹²

In the UK, results from SWAY found that the most important treatment goal reported by both patients and HCPs was ‘improving quality of life’, followed by improving overall symptoms.¹³

SICKLE CELL WORLD ASSESSMENT SURVEY (SWAY)

Patients and doctors were asked
“Other than a cure for sickle cell disease (SCD), what are your 3 most important treatment goals?”

The most common treatment goal for both patients and Doctors was
‘improving quality of life’

Patients

 

Doctors

with ‘improvement in overall symptoms’ stated by:

Patients

 

Doctors

Reference: Inusa B, et al. Patients’ and Health Care Professionals’ Perspectives on Treatment Goals in Sickle Cell Disease – A UK Perspective: Results From the International Sickle Cell World Assessment Survey (SWAY). Abstract published in the British Journal of Haematology. Abstract BSH2020-PO-037

Symptom burden for SCD patients

VOCs have also been reported to negatively impact SCD patients’ quality of life (QoL). In the recent Sickle Cell World Assessment Survey (SWAY) over two-thirds of UK respondents (69%) said that VOCs had a high impact on their emotional wellbeing.¹⁴

SICKLE CELL WORLD ASSESSMENT SURVEY (SWAY)

Sickle cell disease (SCD) is characterised by vaso-occlusive crises (VOCs), which cause severe pain, impact patients’ quality of life and increase the risk of organ damage and early death.

of patients in the SWAY survey reported
experiencing at least one VOC in the
past 12 months...

 

of which were managed at home

The main motivations for managing VOCs at home were:

‘poor experience at A&E or hospital’

 

thinking ‘medical professionals do
ot understand their disease’

Reference: Inusa B, et al. UK Patient perceptions on the symptomatic and emotional burden of vaso-occlusive crises resulting from Sickle cell disease. Abstract published in the British Journal of Haematology. Abstract BSH2020-PO-079A

People with SCD, are also at risk of stroke, acute chest syndrome, blindness and bone damage. Over time, they can also experience damage to the liver, kidneys, lungs, heart and spleen.¹

Visit the Sickle Cell Society website for more information about symptoms and management of SCD.

Living and working with SCD

Living with uncontrolled SCD can negatively impact daily life. UK patients responding to SWAY reported that SCD can have a high impact on relationships with family/spouse (48%) and their daily activities (e.g. housework) (44%).¹⁴

View these patient videos to understand more about what it’s like to live with SCD.

See how Emmanuel uses his experiences of living with SCD to inspire younger people.

SCD19-C003a

June’s story highlights the challenges of living with SCD from her perspective and how she thinks more awareness needs to be raised.

SCD19-C003

SWAY also revealed that people living with SCD in the UK can face difficulties at work, with over 50% of patients surveyed reporting they need support at work due to their SCD.¹⁵ Further, those surveyed also reported often missing work or needing to reduce their hours due to living with SCD.¹⁵

SICKLE CELL WORLD ASSESSMENT SURVEY (SWAY)

Patients with sickle cell disease (SCD) reported that their disease has a high impact on their ability to work...

had seriously considered
reducing hours at work, with...

 

having done so

 

of patients report SCD has
limited them to certain careers

 

report SCD has prevented
them from finding a suitable job

Reference: Inusa B, et al. UK Results from the International Sickle Cell World Assessment Survey (SWAY): Patients with Sickle Cell Disease (SCD) Experience Work Impairment and Decreased Productivity. Abstract published in the British Journal of Haematology. Abstract BSH2020-OR-031

Download our Sickle Cell World Assessment Survey key findings infographic

Download the infographic

Click here

References

1. Sickle Cell Society. About Sickle Cell Disease. Available from: https://www.sicklecellsociety.org/about-sickle-cell/ [Accessed 11 June 2020]

2. National Institute for Health and Care Excellence. (2012). Sickle cell disease: managing acute painful episodes in hospital Clinical guideline [CG143] [Online] Available at: https://www.nice.org.uk/guidance/cg143/chapter/Introduction [Accessed 11 June 2020]

3. National Health Service (2019). Symptoms - Sickle cell disease. Available at: https://www.nhs.uk/conditions/sickle-cell-disease/symptoms/ [Accessed 11 June 2020]

4. Kenny T and Tidy C (2015). Sickle Cell Disease and Sickle Cell Anaemia patient information leaflet. Available at: https://www.stgeorges.nhs.uk/wp-content/uploads/2015/03/SCD-information-... [Accessed 11 June 2020]

5. nhs.uk. (2019). Sickle cell disease - Causes. [online] Available at: https://www.nhs.uk/conditions/sickle-cell-disease/causes/ [Accessed 11 June 2020]

6. Steinberg, M. (1998). Pathophysiology of sickle cell disease. Baillière’s Clinical Haematology, [online] Volume 11(Issue 1, March 1998, Pages 163-184), pp.Pages 163-184. Available at: https://www.ncbi.nlm.nih.gov/pubmed/10872477 [Accessed 11 June 2020]

7. National Health Service (2019). Sickle cell disease - Carriers. [online] Available at: https://www.nhs.uk/conditions/sickle-cell-disease/carriers/ [Accessed 11 June 2020]

8. National Health Service Scotland Inform. Sickle cell disease, Symptoms and Diagnosis. Available at: https://www.nhsinform.scot/illnesses-and-conditions/blood-and-lymph/sick... [Accessed 11 June 2020]

9. James, J., Dormandy, E. (2019), ‘Improving Screening Programmes for Sickle Cell Disorders and Other Haemoglobinopathies in Europe: The Role of Patient Organisations’, Int. J. Neonatal Screen. 2019, 5(1), 12; https://doi.org/10.3390/ijns5010012

10. UK Government (2013). Sickle cell and thalassaemia screening: programme overview. Available at: https://www.gov.uk/guidance/sickle-cell-and-thalassaemia-screening-progr... [Accessed 11 June 2020]

11. Kaul DK, Finnegan E, Barabino GA (2009). Sickle red cell-endothelium interactions. Microcirculation, 16(1):pp 97-111 [online]. Available at: https://pubmed.ncbi.nlm.nih.gov/18720225/ [Accessed 11 June 2020]

12. British Society for Haematology. What is Sickle Cell Disease? Available at: https://b-s-h.org.uk/about-us/news/what-is-sickle-cell-disease-scd/ [Accessed 11 June 2020].

13. Inusa B et al (2020). UK Patients’ and Health Care Professionals’ Perspectives on Treatment Goals in Sickle Cell Disease – A UK Perspective: Results From the International Sickle Cell World Assessment Survey (SWAY). Abstract published in the British Journal of Haematology. Abstract BSH2020-PO-037

14. Inusa B et al (2020). UK Patient perceptions on the symptomatic and emotional burden of vaso-occlusive crises resulting from Sickle cell disease. Abstract published in the British Journal of Haematology. Abstract BSH2020-PO-079A

15. Inusa B et al (2020). UK Results from the International Sickle Cell World Assessment Survey (SWAY): Patients with Sickle Cell Disease (SCD) Experience Work Impairment and Decreased Productivity. Abstract published in the British Journal of Haematology. Abstract BSH2020-OR-031