London, United Kingdom · 11 July 2023 — A landmark Commission published in The Lancet Haematology on 11 July 2023 revealed that an estimated 7.74 million people were living with sickle cell disease (SCD) globally in 2021, representing a 41.4% increase from 5.46 million cases in 2000. The report, titled "Defining global strategies to improve outcomes in sickle cell disease," was developed by an international group of experts, clinicians, researchers, and patient advocates and proposed 12 key recommendations to address what it described as the systemic neglect of one of the world's most common inherited blood disorders.
The findings drew on data from the Global Burden of Disease Study 2021 and painted a picture of a disease whose burden has grown substantially while remaining drastically under-addressed in the regions most affected.
A Disease of Geographic Inequality
The Commission's analysis laid bare the stark geographic disparities in SCD outcomes. Nearly 80% of global cases occur in sub-Saharan Africa, where an estimated 515,000 new births with SCD occurred in 2021 alone. Mortality rates for children under five in the region are significantly higher than in high-income countries, where access to newborn screening, prophylactic penicillin, hydroxyurea, and comprehensive care has transformed SCD from a fatal childhood disease into a manageable chronic condition.
Sickle cell disease is caused by a mutation in the HBB gene, which provides instructions for making haemoglobin. The mutation leads to the production of abnormal haemoglobin S, causing red blood cells to become rigid and sickle-shaped. These deformed cells block blood flow, causing severe pain episodes, organ damage, stroke, and increased susceptibility to infections. Individuals inheriting one copy of the gene have sickle cell trait and are generally asymptomatic but can pass the gene to their children.
Five Pillars of Action
The Commission structured its 12 recommendations around five critical pillars:
1. Epidemiology and Data Collection
The Commission called for routine collection of comparable epidemiological data across countries by 2025. Without accurate data on prevalence, mortality, and access to care, governments cannot be held accountable for progress — or the lack of it. The Commission specifically recommended monitoring implementation and progress at the national level.
2. Screening and Prevention
Newborn and neonatal screening was identified as a priority intervention. Early diagnosis enables initiation of prophylactic penicillin, pneumococcal vaccination, and parental education — interventions that can reduce under-5 mortality by up to 90% in high-income settings. Yet most children in sub-Saharan Africa are never screened.
3. Access to Standard Treatments
The Commission emphasised that effective, low-cost interventions already exist but remain inaccessible to the majority of patients:
| Intervention | Impact | Availability in Africa |
|---|---|---|
| Hydroxyurea | Reduces pain crises and transfusion needs | Limited |
| Prophylactic penicillin | Prevents fatal pneumococcal infections | Inconsistent |
| Pneumococcal vaccination | Reduces infection risk | Improving via Gavi support |
| Blood transfusions | Treats severe anaemia, prevents stroke | Constrained by blood supply |
| Folic acid supplementation | Supports red blood cell production | Variable |
4. Emerging and Curative Therapies
The Commission highlighted the growing pipeline of disease-modifying and curative therapies, including:
- Gene therapy: The US FDA approved lovotibeglogene autotemcel (Lyfgenia) and exagamglogene autotemcel (Casgevy) for SCD in December 2023, offering potential cures through gene editing and addition approaches
- Stem cell transplantation: Bone marrow transplants can cure SCD but are limited by donor availability, cost, and infrastructure requirements
- New disease-modifying agents: Drugs like voxelotor and crizanlizumab have received regulatory approval in some jurisdictions
The Commission stressed that these advanced therapies must not divert attention or resources from ensuring access to basic, cost-effective care for the majority of patients in low-resource settings.
5. Training and Education
A critical shortage of healthcare professionals with expertise in SCD was identified across affected regions. The Commission called for investment in training programmes for health workers, particularly at the primary care level, to enable early recognition, management, and referral of SCD complications.
WHO's Response and the PEN-Plus Model
The Commission's findings align with WHO's growing engagement on SCD. The organisation recognises SCD as a significant public health issue and has developed several initiatives:
- Guidelines: WHO has published consolidated guidelines for management of SCD in children and adolescents, and recommendations for management during pregnancy, childbirth, and the interpregnancy period
- PEN-Plus: A model that complements WHO's Package of Essential Noncommunicable Disease Interventions, providing integrated care for severe noncommunicable diseases among Africa's poorest children and young adults. PEN-Plus clinics deliver care for SCD alongside type 1 diabetes, rheumatic heart disease, and severe asthma
- African Region Strategy: WHO's Regional Office for Africa has developed a dedicated SCD strategy (AFR/RC60/8) to guide national responses
The Path Forward
The Commission's report marked a turning point in the global visibility of sickle cell disease. By quantifying the burden with unprecedented precision and framing the response around concrete, achievable recommendations, the authors sought to move SCD from the margins of global health policy to the mainstream.
The 41.4% growth in global SCD prevalence over two decades — driven by population growth in high-burden regions and improved survival in some settings — means the problem is getting larger, not smaller. Without urgent investment in screening, treatment, and health system strengthening, the gap between the 7.74 million people living with SCD and the fraction who receive adequate care will only widen.
Sources
- The Lancet Haematology Commission, "Defining global strategies to improve outcomes in sickle cell disease," 11 July 2023.
- Thomson AM et al., "Global, regional, and national prevalence and mortality burden of sickle-cell disease, 2000–2021: a systematic analysis from the Global Burden of Disease Study 2021," The Lancet Haematology, Volume 10, Issue 8, e585–e589.
- World Health Organization, "Sickle-cell disease" fact sheet.
- King's College London, "Experts urge governments to take action and provide basic levels of care for people with sickle cell disease," July 2023.
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Institutional Research Desk · Foresight Institute of Research and Translation
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