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Home » Rare diseases » Shaping a better future for people living with sickle cell disease in the UK

Owen Marks

Head of Rare Diseases, Pfizer UK

While referred to as ‘rare’ due to the smaller size of individual patient populations, rare diseases collectively are common, with 1 in 17 people affected.1  

Rare disease communities are underserved, with only 5% of rare diseases having available treatment options.2 On Rare Disease Day 2023, we shine a light on one of those rare conditions, Sickle Cell Disease (SCD).  

What is sickle cell disease?  

SCD is a rare genetic disease affecting approximately 52,000 people in Europe 3 and 15,000 people in the UK, 4 primarily of African, Mediterranean and South Asian descent.  

SCD is a debilitating lifelong blood disorder affecting haemoglobin, a protein carried by red blood cells (RBCs) that delivers oxygen throughout the body.5 People with SCD form abnormal haemoglobin called sickle haemoglobin. 5 This causes RBCs to lose flexibility, becoming rigid, sticky and sickle shaped. 

Recurrent sickling process results in the breakdown of RBCs, blockages in capillaries and small blood vessels and haemolytic anaemia (low haemoglobin and low oxygen delivery in the body due to RBC destruction).5  

Reduced oxygen delivery to tissues and organs means people with SCD experience progressive, life-threatening complications, including damage to major organs such as the liver, kidneys, lungs and heart, contributing to decreased quality of life and early death.6 Life expectancy is reduced by approximately 30 years compared to the general public. 

Improving care for people with SCD 

Recent reports have described the urgent need for improved care and treatment for people living with SCD:  

  • The ‘No One’s Listening Report’ published by the APPG on Sickle Cell and Thalassaemia with the Sickle Cell Society, found inadequate levels of training and investment and low awareness of SCD among healthcare professionals.8 It called for positive change including mandatory training on SCD for nurses and guidelines to support healthcare professionals.8 
  • In January 2023, the NHS Race and Health Observatory commissioned the Sickle Cell Digital Discovery report, echoing the No One’s Listening report.9 Patients were exposed to negative attitudes; and during a sickle cell crisis, the NHS does not always provide patients with a reliably good experience, concluding the NHS should redesign sickle cell services.9 
  • A multinational survey commissioned by Global Blood Therapeutics, a Pfizer subsidiary, and conducted by Ipsos Healthcare of 1,345 people from 10 countries, highlighted the societal and economic burden SCD places on patients, caregivers and healthcare systems.10 The survey underscored that living with SCD goes beyond physical pain and significantly impacts the quality of life and mental health of both patients and caregivers.10 Patients with SCD also miss over three months of work or school every year due to SCD – thus reducing earning potential.10  

There is an urgent need for new conversations around SCD from a medical, socioeconomic and political perspective — industry, healthcare, government and professional bodies need to work together to help improve quality of life for SCD patients and caregivers in the UK to help ensure they receive the care and support they need.

Paid for by Pfizer

DoP: February 2023

[1] The UK Rare Diseases Framework. Published 9 January 2021. Available at: [Accessed February, 2023].
[2] Global Genes. Available from: Rare Disease Facts. [Accessed January 2023].
[3] European Medicines Agency. [Accessed February 2023]
[4] Sickle Cell Society. About Sickle Cell. [Accessed January 2023]
[5] Kato GJ, Piel FB, Reid CD, et al. Sickle cell disease. Nat Rev Dis Primers. 2018;4:18010. Available from: [Accessed January 2023].
[6] Lubeck D, Agodoa I, Bhakta N, et al. Estimated Life Expectancy and Income of Patients With Sickle Cell Disease Compared With Those Without Sickle Cell Disease. JAMA Network Open. 2019;2(11):e1915374. 
[7] Piel et al. Sickle Cell Disease. New England Journal of Medicine. 2017;376:1561. DOI: 10.1056/NEJMra151086 5
[8] The Sickle Cell Society and All-Party Parliamentary Group on Sickle Cell and Thalassaemia. No One’s Listening report. 15 November 2021. [Accessed 9 December 2022].
[9] The NHS Race and Health Observatory. Sickle Cell Digital Discovery Report. January 2023. Available at:; [Accessed February, 2023].
[10] GBT Sickle Cell Health Awareness, Perspectives and Experiences (SHAPE) Survey: Final Report. Data on File. (2022) (PP-UNP-GBR-2659) 

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