Sickle cell disease (SCD) is a serious, genetic blood disorder that affects haemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. In people with SCD, red blood cells become rigid and ‘sickle-shaped’, which can block blood flow, causing severe pain, organ damage and life‑threatening complications.
It is also a significant global health issue. Around 7.7 million people worldwide are living with the condition, with most cases occurring in sub‑Saharan Africa. Early diagnosis, particularly through newborn screening, alongside access to appropriate treatment, can dramatically improve outcomes – yet these remain unevenly available across regions.
To mark World Sickle Cell Day, we spoke with Dr Yvonne Daniel, Consultant Lead Scientist in Haematology and a scientific advisor to national and international screening programmes, including initiatives supporting haemoglobinopathy screening in Nigeria, Tanzania and Zambia. Her work spans advanced diagnostics, policy development and capacity building, placing her at the forefront of efforts to improve detection and care.
Addressing the global burden
From your perspective as both a diagnostic expert and advisor to international screening programmes, what are the most urgent gaps in awareness and care for sickle cell disease globally, particularly in high-burden regions like Africa?
Widely available access to affordable, reliable diagnostics and subsequent clinical care remains the most critical gap, alongside comprehensive education for healthcare professionals. Raising public awareness and removing the stigma that continues to surround sickle cell disease is equally important, as is fostering strong patient advocacy groups that can drive change at both community and policy levels.
A particularly meaningful example of this in practice was a session I co-facilitated in Zambia, where sickle cell disease patients were given the space to discuss their experiences with care across different healthcare settings directly with clinical teams – a dialogue that proved both valuable and illuminating for all involved.
Advancing diagnostics and early detection
You have been advancing diagnostic techniques and newborn screening for haemoglobinopathies. How have innovations in diagnostics changed the outlook for patients with sickle cell disease?
Implementation of newborn screening programmes for sickle cell disease (SCD), combined with timely clinical follow-up and preventive care, has transformed outcomes for affected children, significantly reducing mortality and improving quality of life.
A particularly exciting area of innovation is the development of non-invasive prenatal diagnosis using placental cell-free DNA circulating in maternal plasma. This approach has the potential to enable earlier and safer detection of SCD during pregnancy, supporting informed decision-making and earlier clinical planning.
More broadly, advances in genomic technologies are helping us move towards more precise and personalised approaches to diagnosis and care. I have also been involved in a recent initiative led by Genomics England, the Sickle Cell Society and the James Lind Alliance, which co-produced a Priority Setting Partnership (PSP) for Sickle Cell Disease and Genomics. This identified the top 10 research priorities for the field and will help drive innovative research focused on the questions that matter most to people living with the condition and their families.
Which novel laboratory-based approaches or services are on the horizon for sickle cell disease?
Apart from gene therapy – which is hugely exciting but remains inaccessible to many patients and presents significant delivery challenges in the lower-middle-income countries where the disease burden is greatest – advances in the treatment of sickle cell disease (SCD) over the past twenty years have been relatively limited. Looking ahead, there is hope that large-scale genomics initiatives will deepen our understanding of disease biology and facilitate the development of more affordable and widely accessible therapies.
Working in partnership with Africa
You have worked closely on implementing screening programmes in countries like Nigeria. What have been the key lessons from these collaborations, and how can global partnerships better support sustainable sickle cell disease programmes in Africa?
Consistency is key. Successful programmes require a clear plan for a sustainable partnership, reliable testing equipment and careful consideration of the entire screening pathway. Ongoing education, training and support are also essential, and these can increasingly be delivered through remote working and digital communication tools.
Global partnerships must recognise that long-term success depends on continued support, capacity building and oversight. These elements should be incorporated into project planning from the outset, rather than treated as short-term objectives.
Turning awareness into action
Translating awareness into real-world impact can be challenging. What practical steps should healthcare systems and stakeholders take to improve early diagnosis, access to care and long-term outcomes?
It is crucial to establish sustainable, well-governed care pathways with appropriate oversight. These pathways should ensure that all newborns are screened, that test results are accurate and reliable and that results are communicated effectively to families. Equally important is ensuring that children diagnosed with sickle cell disease are successfully linked to ongoing clinical care.
A particular challenge in sub-Saharan Africa has been returning results to families and preventing children from being lost to follow-up. Addressing these gaps is essential to improving outcomes.
It is also important to involve all relevant healthcare professionals in pathway design, implementation and oversight. Most importantly, patient advocacy groups must be engaged throughout the process. They play a vital role in promoting patient engagement, identifying barriers to care and helping to develop services that are both effective and fit for purpose.
