Garden Experts Insights | Learnings for Other Global Health Interventions? Dr C. Medri

Bridging the Access Gap for Comprehensive Sickle Cell Disease Management Across Sub Saharan Africa: Learnings for Other Global Health Interventions?

Dott. C. Medri
Management of Hemoglobinopathy diagnostic and Hemoglobinopathy Hematology, Laboratory diagnostic (incl. morphology, flow-cytometry and transfusion medicine)Swiss National Science Foundation SNSF

This article is part of the GARDEN Experts Insights series, featuring key perspectives from leading international experts who contribute to GARDEN educational initiatives and webinars.
In this edition, Dr. Cesare Medri explores the challenges of improving access to comprehensive sickle cell disease (SCD) care across sub-Saharan Africa, where the burden of disease remains disproportionately high. Drawing on clinical evidence and real-world experiences, he highlights the importance of early diagnosis, access to essential treatments, healthcare infrastructure, and multidisciplinary collaboration in reducing health inequalities. His contribution also examines how strengthening healthcare systems, government engagement, and community participation can provide valuable lessons for sustainable global health interventions.

Introduction

Sickle cell disease is one of the most significant inherited blood disorders in the world and one of the most obvious example of disparity between knowledge and access to care. Abnormal hemoglobin, most often hemoglobin S, alters the shape and function of red blood cells and causes the disease. Hemoglobin S is able to polymerize under low oxygen conditions, resulting in rigid, sickle-shaped red cells. These cells are destroyed too early, causing chronic hemolytic anemia, and can block small blood vessels, causing vaso-occlusion and damage to tissues (Ware et al., 2017).

The clinical implications are much more than anemia. Individuals with sickle cell disease can have recurrent pain, acute chest syndrome, stroke, severe infections, renal disease, pulmonary complications, retinopathy and progressive organ damage. The disease may thus impact on education, employment, family life and quality of life during the entire lifespan.

This is especially alarming in sub-Saharan Africa. The majority of people with sickle cell disease are believed to live in this area, with many children being undiagnosed and not starting preventive care at the right time (Ally & Balandya, 2023). According to the Global Burden of Disease Study, the population with sickle cell disease worldwide rose from 5.46 million in 2000 to 7.74 million in 2021.

The total mortality burden due to sickle cell disease was estimated to be about 376,000 deaths in that same year, including a significant burden among children under the age of five (GBD 2021 Sickle Cell Disease Collaborators, 2023). The problem in Africa is not just a lack of effective treatments; there are numerous interventions available that have the potential to decrease morbidity and mortality. The bigger challenge is developing a system for early diagnosis, linkage to care, and lifelong monitoring and treatment.

The webinar presented by Dr Cesare Medri, on improving diagnosis and management of sickle cell disease worldwide presents this challenge from a practical perspective. It’s a message of access that must be comprehensive. Screening, medicines, trained professionals, blood services, specialist care, government commitment and community participation need to work together. This experience also provides lessons which can be applied to other global health interventions beyond sickle cell disease.

The African Burden

Sub Saharan Africa is not a peripheral region in the global story of sickle cell disease; it is right at the centre of it. Sickle cell disease is particularly common in regions where malaria has historically been endemic, reflecting the evolutionary advantage associated with sickle cell trait against severe malaria. Today, however, the same genetic background contributes to a major chronic disease burden.

The epidemiological picture remains incomplete because many countries lack systematic newborn screening and reliable national disease registries. This creates an important paradox. The region with the largest burden is also one of the regions where the true size and distribution of the affected population are least precisely measured.
Recent registry data are beginning to address this gap. The SickleInAfrica registry analyzed 13,403 people with sickle cell disease across 31 facilities in Ghana, Nigeria and Tanzania.

The average age at diagnosis differed substantially between countries, being approximately three months in Ghana, 19 months in Nigeria and three years in Tanzania. Hydroxyurea use was also highly variable, reaching 21% in Ghana compared with 12% in Nigeria and only 6% in Tanzania (Morrice et al., 2025).
These differences demonstrate that access is shaped by health system organization rather than disease biology alone.

The consequences of delayed diagnosis can be severe. A population level analysis in Nigeria estimated mortality among children under five with sickle cell disease at 490 deaths per 1,000 live births for children born between 2003 and 2013. This was four times higher than mortality among children without sickle cell disease. The investigators estimated that approximately 4.2% of national under five mortality could be attributed to sickle cell disease and its complications (Esezobor et al., 2021).
These figures make early diagnosis and preventive care more than desirable goals. They are essential public health interventions.

Diagnosis Starts Early

Newborn screening is one of the strongest foundations for comprehensive sickle cell disease care. A baby with sickle cell disease may appear clinically well during the first months of life because fetal hemoglobin provides temporary protection. Waiting for symptoms therefore might mean waiting until the disease has already begun to cause preventable risk.

Early identification allows children to enter a structured program that can include infection prevention, immunization, malaria prevention where appropriate, parental education, regular clinical monitoring and later disease modifying treatment. Evidence from different settings has established the value of identifying affected infants before serious complications develop (Nnodu et al., 2024).

Yet universal newborn screening remains unavailable across much of sub Saharan Africa. The problem is not necessarily the absence of suitable technology. Point of care approaches and dried blood spot testing have created opportunities for decentralized screening, including in areas where conventional laboratory infrastructure is limited.
Experience from Ghana illustrates both the opportunity and the difficulty. At Korle Bu Teaching Hospital, 115 nurses and midwives were trained in heel prick dried blood spot collection.

During the initial demonstration phase, 4,427 of 9,990 newborns were screened, representing 44.3% coverage. Seventy nine newborns, or 1.8% of those screened, had presumptive sickle cell disease. After changes were introduced to address staffing, supply and result reporting problems, screening coverage increased to 83.7% (Segbefia et al., 2021).

The recent experience of the American Society of Hematology Consortium on Newborn Screening in Africa provides further evidence of what is possible. Across 11 sites in seven countries, nearly 175,000 newborn samples had been assessed by November 2025. The overall prevalence of sickle cell disease was 1.46%, reaching 2.00% in Mwanza, Tanzania. However, fewer than half of affected infants had documented clinical follow up, showing that screening itself does not close the access gap (CONSA investigators, 2026). The lesson is straightforward. A screening program is only successful when diagnosis is connected to treatment and long-term care.

Building Comprehensive Care

The webinar places comprehensive management at the core of the solution. This means moving away from a model in which patients visit a specialist only when a crisis occurs and toward a coordinated system that manages disease throughout the patient’s life.
The required network includes general practitioners, hematologists and pediatric hematologists, blood banks, diagnostic laboratories, transcranial Doppler services, ophthalmologists, nephrologists and other specialists such as cardiologists, endocrinologists, orthopedic specialists and gynecologists.

Each component addresses a different aspect of the disease. Transcranial Doppler ultrasonography can identify children at increased risk of stroke before neurological injury occurs. Ophthalmological assessment can identify retinal complications. Renal monitoring can detect progressive kidney disease. Blood banks are essential for acute transfusion and, in selected patients, chronic transfusion programs.

African studies demonstrate that these services can be developed even where resources are limited. In Nigeria, a 10 year study of 396 children enrolled in a stroke prevention program showed that hydroxyurea was associated with significant reductions in transcranial Doppler velocities. Only two stroke events occurred during follow up, corresponding to a stroke incidence of 0.08 per 100 patient years (Lagunju et al., 2021).

However, comprehensive care cannot depend entirely on tertiary hospitals. A sustainable model requires networks in which difficult cases are referred to specialized centres while routine management remains closer to patients’ communities. SickleInAfrica has developed standards of care that consider different levels of the health system, from specialist facilities to district services and community settings (SickleInAfrica Standards of Care Working Group, 2023).
This network approach is particularly important across large geographical regions where travelling to a major hospital may itself be a barrier to treatment.

Making Hydroxyurea Accessible

The webinar identifies access to hydroxyurea and other therapies as another major priority. Hydroxyurea is not a new experimental intervention; it is an established disease modifying treatment that can increase fetal hemoglobin and reduce vaso occlusive complications, transfusions needs and other clinical events.
The evidence from sub Saharan Africa is particularly important because concerns about treatment feasibility in resource limited settings have often been cited as barriers to wider use.

The REACH study provided strong evidence that hydroxyurea can be delivered safely and effectively to children in African settings. The study enrolled 635 children across four sub Saharan African countries, with 606 starting treatment. Retention at three years was 94.2%. During treatment, vaso occlusive pain events decreased from 98.3 to 44.6 events per 100 patient years, while malaria events decreased from 46.9 to 22.9 per 100 patient years. Transfusions declined from 43.3 to 14.2 events per 100 patient years, and mortality declined from 3.6 to 1.1 deaths per 100 patient years (Tshilolo et al., 2019).

Real world experience in Malawi has produced similar findings. Among 187 children, 135 received hydroxyurea, and no severe treatment-related toxicity was documented. Under a targeted treatment approach, hospitalizations, fever, transfusions and school absences decreased following treatment initiation (Heitzer et al., 2019).
The remaining problem is therefore largely one of access, financing and delivery. A national program in Ghana illustrates what can happen when multiple stakeholders work together.

A public private partnership involving government, the Sickle Cell Foundation of Ghana, industry and other organizations helped expand access to hydroxyurea, and in 2022 the Ghanaian government incorporated hydroxyurea into its National Health Insurance Scheme (Nyonator et al., 2023).
The broader message is key: a drug cannot be considered accessible simply because it exists. It must be affordable, consistently available and incorporated into a system that supports prescribing, monitoring and adherence.

Strengthening the Workforce

A comprehensive program also depends on people. The webinar recommends identifying gaps in knowledge among both medical and non-medical personnel, strengthening and deepening training accordingly.
This is particularly important because sickle cell disease frequently presents outside specialist hematology clinics. A child may first present to a primary care provider, emergency department or general hospital with fever or pain.

If healthcare professionals are unfamiliar with the disease, diagnosis can be delayed and inappropriate treatment can follow.
A study of comprehensive care practices among physicians in Nigeria found substantial variation in implementation. Although counselling was routinely provided, fewer than half of participating physicians reported using hydroxyurea. Only 58% routinely scheduled investigations, while referral patterns varied between adult and pediatric haematologists (Anigbogu et al., 2025).

Training therefore needs to extend beyond specialist centres. Country specific guidelines can help translate international evidence into practical recommendations that reflect local resources, disease patterns and healthcare structures.
The aim should not be to make every clinician a sickle cell specialist. It should be to ensure that every level of the health system knows what it can manage, when specialist advice is required and how to keep patients connected to care.

Blood Services and Blood availability

Blood transfusion remains an important part of sickle cell disease management, particularly for severe anemia, acute complications and stroke prevention. Yet safe and timely transfusion services remain difficult to provide consistently in many African settings. A survey of Nigerian hospitals found that 78% responding centres were unable to transfuse patients regularly because of blood shortages.

Only 14 centres had packed red blood cells consistently available, while extended red cell phenotyping and alloantibody screening were unavailable in all surveyed centres (Adewoyin et al., 2016). These limitations have dire clinical consequences; patients who require transfusion may experience delays, while inadequate laboratory capacity increases the risk of transfusion complications.

This is why comprehensive SCD management must include blood banks as part of the care pathway rather than treating them as a separate service. Improving voluntary blood donation, laboratory testing, antigen matching and access to transfusion equipment can become an important part of improving SCD outcomes.

Government Has to Lead

The webinar highlights limited governmental awareness and inadequate prioritization of sickle cell disease programs as major barriers. This is a critical point because long term disease management cannot depend entirely on individual hospitals, charities or temporary external projects.
Government involvement is required to create national screening policies, finance essential medicines, support laboratory and blood infrastructure, train healthcare professionals and establish sustainable referral networks.

The Ghana experience demonstrates the potential effect of national policy. The adoption of hydroxyurea into the National Health Insurance Scheme represented a shift from isolated program support toward institutionalized access (Nyonator et al., 2023).
The need for government ownership becomes even more important as newer and more expensive treatments emerge. Haematopoietic stem cell transplantation and gene therapy may eventually provide curative options for selected patients, but these approaches require highly specialized infrastructure and substantial investment. Current evidence therefore supports strengthening basic and comprehensive care even as advanced therapies develop (Odame & Bazuaye, 2024).

Patients and Communities Matter

Healthcare systems do not operate independently from society. The webinar therefore calls for involvement of patient organizations, public figures, universities, charities, religious organizations and the press.
Patient organizations can identify practical barriers that may not be visible to policymakers or clinicians. Families can explain why patients miss appointments, why medicines are difficult to obtain or why referral systems fail. Universities can contribute research and workforce development. Community and religious organizations can support education and reduce misconceptions.
This approach is consistent with a broader understanding of sickle cell disease as both a medical and social condition. Social determinants such as poverty, education, transport, employment and access to healthcare influence outcomes alongside biological disease severity (Porter et al., 2023).
For this reason, patients should not be viewed simply as recipients of healthcare. Their experience is part of the evidence needed to design better systems.

The Problem of Poor Quality Medicines

One of the most striking issues highlighted in the webinar is the presence of substandard and falsified medicines. This problem is particularly relevant when patients already face limited access to legitimate treatment.
A 2024 systematic review of 27 studies involving more than 7,500 medicine samples estimated that 22.6% of medicines assessed in Africa were substandard or falsified. The problem was associated with weaknesses in medicine regulation, registration, importation and supply systems (Mekonnen et al., 2024).

For sickle cell disease, the implication is serious. A patient who cannot obtain a reliable supply of hydroxyurea may turn to informal markets. A medicine that is cheaper but substandard does not represent genuine access. It can expose patients to treatment failure and undermine confidence in the healthcare system.
The solution requires stronger regulatory agencies, better supply chains, appropriate medicine registration and effective monitoring of imported medicines. Access and quality therefore must be addressed together.

A System Rather Than a Single Intervention

The experience of sickle cell disease in Africa demonstrates why isolated interventions rarely produce sustainable change.
Screening without follow up identifies children who may never receive treatment. Hydroxyurea without reliable supply chains cannot provide continuous protection. Specialist centres without referral networks remain inaccessible to much of the population. Blood banks without adequate infrastructure cannot support patients who need transfusion. Guidelines without trained healthcare professionals remain theoretical.
Comprehensive care requires these elements to operate together.

The framework proposed in the webinar can therefore be understood as a continuum. A child is identified through newborn screening, receives confirmatory testing, enters clinical care, receives preventive interventions and disease modifying therapy when indicated, undergoes surveillance for complications, accesses specialist services when required and remains connected to care into adulthood.
This model is also supported by experts and scientific literature. Reviews of SCD care in resource limited countries consistently identify newborn screening, infection prevention, hydroxyurea, blood services, stroke prevention, education and coordinated referral as interconnected components rather than separate interventions (Dua et al., 2022; Esoh et al., 2021).

Lessons for Global Health

The lessons from sickle cell disease extend well beyond haematology. First, diagnosis must be connected to care. Screening program should not measure success only by the number of tests performed. The more meaningful outcome is the proportion of diagnosed patients who successfully enter and remain in treatment.
Second, proven interventions should be made affordable before health systems become dependent on expensive technologies.

Hydroxyurea demonstrates that a relatively established treatment can still have major public health value when access is expanded.
Third, global health programs should strengthen existing systems rather than create parallel structures. Local laboratories, primary care services, hospitals, universities and government agencies should be part of the intervention from the beginning.
Fourth, local evidence matters.

The experience of African patients cannot always be inferred from studies conducted in high income countries. Regional registries such as SickleInAfrica provide the data needed to understand disease patterns, treatment uptake and health system gaps within African populations (Morrice et al., 2025).
Fifth, sustainability requires local ownership. External funding and international partnerships can accelerate progress, but long term programs need governments, local institutions and communities to share responsibility.

Finally, access should be measured from the patient’s perspective. A drug may be registered but unavailable; a specialist may exist but be hundreds of kilometres away; a screening test may be performed but the result may never reach the family; and a treatment may be affordable but unavailable in local pharmacies. These are all forms of access failure.

Conclusion

Sickle cell disease is a stark illustration of medical advances and great inequalities in health service provision. Despite the high burden of disease in Sub Saharan Africa, many patients are still not diagnosed early, treated for the disease, monitored by specialists and have access to basic health services.
The message of the webinar is therefore not just about sickle cell disease. The access gap needs to be closed through a holistic strategy that includes early diagnosis, cost-effective treatment, trained health care workers, multi-disciplinary services, robust blood systems, government leadership, patient engagement and reliable access to medicine.

The region doesn’t have to wait for a new therapy to be developed before they can make progress. There are many interventions that can save lives that already exist. What is key is to create systems that can reliably and fairly provide them. In other global health interventions, this is probably the most crucial lesson. Innovation makes things possible, systems make things accessible. Successful interventions that are integrated into local health services, backed by government, influenced by community and oriented to the people who rely on them are the hallmark of sustainable progress.

References