Isaac Odame

Many of the children with sickle cell disease born in sub‐Saharan Africa remain undiagnosed and untreated. Increasing capacity and infrastructure to support diagnostic and screening programs in high income countries have enabled near universal survival into adulthood. Early diagnosis and treatment are achievable goals that enjoy widespread consensus in sub‐Saharan Africa but may require a variety of individualized approaches that are specific to each country. A clear understanding of the issues that influence program building is required before identifying solutions adapted to the diverse health care settings in Africa and responsive to the challenges observed during pilot programs.

Background: Sickle cell disease (SCD) contributes to under-five mortality in sub-Saharan Africa (SSA). Early diagnosis and care are crucial, but costs and access to point of care testing are problematic. Building on an earlier study that showed strong community acceptability of integrating point-of-care testing (POCT) into primary healthcare, this study estimates SCD incidence, assesses case enrollment in comprehensive care, and evaluates adherence to management guidelines in Ghana.Methods: In a prospective study in 10 primary healthcare facilities in Kassena-Nankana District, we screened children under 5 years for SCD using a haemoglobin electrophoresis-based POCT (Gazelle) during immunizations, referring screen-positive cases for confirmation and care.Results: Between August 2022 and September 2023, 6024 newborn babies and infants were screened for SCD. The findings of the study indicated that 3971 (66%) children had normal hemoglobin (HbAA), 1149 (19%) HbAC, 720 (11.9%) HbAS, 106 (1.8%) HbCC, 58 (1.0%) HbSC, and 23 (0.3%) HbSS. We identified 81 children with SCD, with 75 (92.6%) enrolled in care, 74% of which remain in care after two years. Thirteen (16.5%) initiated hydroxyurea treatment. Challenges included long distances to the clinic, limited transportation on market days, and parents underestimating the need for regular visits, resulting in missed interventions.Conclusion: This study shows that integrating POCT for SCD screening into remote primary healthcare is feasible. The SCD prevalence was 1.3%, consistent with findings in Northern Ghana. Addressing the barriers to accessing care will be crucial in scaling SCD care to other regions. These results underscore the need for national health policy to support POCT integration into primary care services for early diagnosis and care in SSA.

Summary: Globally, sickle cell disease (SCD) is the most common inherited haemoglobinopathy. The highest burden of SCD is encountered in low‐ and middle‐income countries (LMICs), most of which lack the resources to contend with the disease. There is a marked divide between care for individuals with SCD in high‐income countries (HICs) versus LMICs, whereby the few disease‐modifying therapies and curative regimens are only accessible to those in HICs. As such, blood transfusion remains central to the emergent treatment and prevention of complications of SCD. However, there are a myriad of related challenges in LMICs, which have impeded efforts to treat patients with SCD effectively. In addition to blood safety and availability, examples that impact SCD specifically include capabilities to detect and/or manage red blood cell alloimmunization, capacity for automated red cell exchange, limited immunohematology, suboptimal quality oversight with a lack of safeguards to prevent transfusion of incompatible blood and limited or absent post‐transfusion surveillance to detect and/or manage transfusion‐associated adverse events. Consequently, clinical practices that are otherwise regarded as standard of care in HICs remain the exception in LMICs, highlighting disparities in care. A multifaceted approach that prioritizes transfusion support in LMICs is needed to improve care for patients with SCD.

The mortality burden of sickle cell anemia (SCA) is centered in sub-Saharan Africa. In addition to a lack of systematic programs for early diagnosis, access to disease-modifying treatments is limited to only a few urban centers. Providing a safe and adequate blood supply is a major challenge, heightening mortality from SCA-associated complications that require urgent blood transfusion and making the delivery of regular transfusion therapy for stroke prevention nonfeasible. Hydroxyurea therapy with proven clinical benefits for pain episodes, acute chest syndrome, malaria, transfusions, hospitalizations, and stroke prevention is the most feasible treatment for SCA in Africa. Access barriers to hydroxyurea treatment include poor availability, unaffordable costs, health professionals' reluctance to prescribe, a lack of national guidelines, and exaggerated fears about drug toxicities. Strategies for the local manufacture of hydroxyurea combined with the systematic education and training of health professionals using guidelines supported by the World Health Organization can help surmount the access barriers. Hematopoietic stem cell transplantation as a curative therapy is available in only 7 countries in Africa. The few patients who have suitable sibling donors and can afford a transplant must usually travel out of the country for treatment, returning to their home countries where expertise and resources for posttransplant follow-up are lacking. The recently developed ex-vivo gene therapies are heavily dependent on technical infrastructure to deliver, a daunting challenge for Africa. Future in-vivo gene therapies that bypass myeloablation and ex-vivo processing would be more suitable. However, enthusiasm for pursuing these gene therapies should not overlook strategies to make hydroxyurea universally accessible in Africa.

Objectives: Sickle cell disease (SCD) is an inherited disorder that causes lifelong complications, substantially impacting the physical and emotional well‐being of patients and their caregivers. Studies investigating the effects of SCD on quality of life (QOL) are often limited to individual countries, lack SCD‐specific QOL questionnaires, and exclude the caregiver experience. The SHAPE survey aimed to broaden the understanding of the global burden of SCD on patients and their caregivers and to capture the viewpoint of healthcare providers (HCPs).Methods: A total of 919 patients, 207 caregivers, and 219 HCPs from 10, 9, and 8 countries, respectively, answered a series of closed‐ended questions about their experiences with SCD.Results: The symptoms most frequently reported by patients were fatigue/tiredness (84%) and pain/vaso‐occlusive crises (71%). Patients' fatigue/tiredness had one of the greatest impacts on both patients' and caregivers' QOL. On average, patients and caregivers reported missing 7.5 days and 5.0 days per month, respectively, of school or work. HCPs reported a need for effective tools to treat fatigue/tiredness and a desire for more support to educate patients on long‐term SCD‐related health risks.Conclusions: The multifaceted challenges identified using the SHAPE survey highlight the global need to improve both patient and caregiver QOL.

Background: Sickle cell disease (SCD) is a major unresolved global health issue, with the highest disease burden in sub-Saharan African countries; yet, SCD care has not proportionally reached patients in these regions, and the disease has received limited attention in the past. Addressing the burden of SCD in sub-Saharan Africa requires a holistic, collaborative approach to ensure solutions are both comprehensive – i.e., cover the entire continuum of care from early diagnosis to treatment – and sustainable – i.e., are co-created and co-owned with local partners and integrated into existing local systems to enable long-term independence without the need for continuous external support. Objective: We outline a set of recommendations for enhancing the provision of comprehensive healthcare for prevalent diseases in resource-constraint settings, gathered from the Novartis Africa SCD Program, that could serve as ‘blueprint’ for public-private partnerships to tackle global health priorities. Methods: The Novartis Africa SCD program was initiated with the aim to bridge access gaps to SCD care and provide comprehensive and innovative treatment solutions for SCD, especially in SSA where the disease burden is highest. The Program was first inaugurated in 2019 in Ghana through a public-private partnership with the Ministry of Health of the Government of Ghana, the Ghana Health Service, and the Sickle Cell Foundation of Ghana. Through engagement with these partners, as well as with support from other organizations with complementary competencies and resources, several targeted solutions were implemented to help strengthen the healthcare ecosystem to allow for comprehensive SCD management. Learnings from these interventions are highlighted as best practice consideration as a catalyst and to activate more public-private actors for this neglected global health issue. Findings and Conclusions: A solid understanding of the access barriers to comprehensive care has to be acquired by listening to and learning from patients, civil society, and local experts. Access barriers need to be addressed at multiple levels, i.e., by not only making medicines available and affordable, but also by strengthening healthcare systems, building capacity, and fostering local research and development. Partnerships across governmental, public, academic, non-profit, and private organizations are needed to secure political will, pool resources, gather expertise with understanding of the local context, and allow integration into all levels of existing local healthcare structures and the wider society.