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Sickle cell disease (SCD) is a common condition within sub-Saharan Africa and associated with high under-5 (U5) mortality. The American Society of Hematology instituted the Consortium on Newborn Screening in Africa (CONSA) for SCD, a seven-country network of sites to implement standardized newborn hemoglobinopathy screening and early intervention f...
Contexts in source publication
Context 1
... countries joined the consortium: Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda and Zambia ( Figure 1, Table 3, Appendix 3). All sites except Kenya had previously performed infant SCD screening. ...
Citations
... Universal screening for SCD and SCT is limited in Africa, with Egypt being the sole African country implementing universal NBS for SCD. Some countries like Angola, Benin, Ghana, Nigeria, Zambia have piloted NBS programs for SCD [9][10][11][12][13][14]. Cameroon had previously piloted prenatal testing for SCD as part of a research initiative to introduce medical genetic services at a tertiary health facility [11,15,16], and some states in Nigeria are considering bills for mandatory premarital testing and registration of new births [17]. ...
Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification of carriers of SCT. People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD. This qualitative study explored perceptions towards genetic testing for SCD and SCT in Cameroon, Ghana, and Tanzania. The results show a general preference for newborn screening for SCD over prenatal and premarital/preconception testing, primarily due to its simpler decision-making process and lower risk for stigmatization. Premarital testing for SCT was perceived to be of low public health value, as couples are unlikely to alter their marriage plans despite being aware of their risk of having a child with SCD. Adolescents were identified as a more suitable population for SCT testing. In the case of prenatal testing, major concerns were centred on cultural, religious, and personal values on pregnancy termination. The study revealed a gender dimension to SCD/SCT testing. Participants mentionned that women bear a heightened burden of decision making in SCD/SCT testing, face a higher risk of rejection by potential in-laws/partners if the carriers of SCT, as well as the possibility of divorce if they have a child with SCD. The study highlights the complex cultural, ethical, religious and social dynamics surrounding genetic testing for SCD and emphasises the need for public education on SCD and the necessity of incorporating genetic and psychosocial counselling into SCD/SCT testing programs.
... Unfortunately, many testing facilities in Africa lack quality assurance programmes or have inadequate ones, which can lead to errors in testing and misdiagnosis. 56 Quality assurance programmes not only need specimens with known values to measure along with patient specimens but also involve regular checks of equipment, reagents, and personnel performance, as well as ongoing training and education of staff on quality assurance practices. Quality assurance includes standardisation and harmonisation in testing protocols between laboratories and between countries. ...
Background
Haemoglobinopathies, including sickle cell disease and β-thalassaemia, are monogenic disorders with a relatively higher prevalence among malaria-endemic areas in Africa. Despite this prevalence, most African countries lack the necessary resources for diagnosing and managing these debilitating conditions.
Aim
This study provides a critical review of newborn screening for detecting haemoglobinopathies in Africa, highlighting challenges and proposing strategies for improved diagnosis and management.
Methods
A literature search on haemoglobinopathies in Africa was conducted in PubMed, Google Scholar and ScienceDirect, using specific keywords and Boolean operators, including articles published from January 1981 to December 2022.
Results
The data show that sickle cell disease is prevalent among populations in Central and West Africa; however, β-thalassaemia is prevalent among people in the northern parts of Africa. Newborn screening pilot initiatives for haemoglobinopathies were being implemented in Angola, Nigeria, Ghana, the Democratic Republic of Congo and the Republic of Benin. The cost of testing, lack of sufficient and accessible medical records, and inadequacy in healthcare infrastructure pose significant challenges in bridging the gaps in newborn screening. Furthermore, the stigmatisation and lack of awareness of haemoglobinopathies and access to newborn screening programmes pose additional challenges.
Conclusion
This review highlights the challenges associated with haemoglobinopathy testing, effective strategies for mitigating these challenges, and future perspectives for expanding efforts toward detecting and managing these disorders across Africa. Providing affordable diagnostic tools, mobile clinics, government subsidies, education campaigns, and the implementation of electronic medical records systems could help bridge the gaps in newborn screening in Africa.
What this study adds
The study presents a comprehensive view of newborn screening of haemoglobinopathies in Africa, provides a detailed outline of the challenges faced by newborn screening for haemoglobinopathies in Africa, and offers strategies for better diagnosis and care.
... These measures may encompass the establishment of localized or nationwide public health outreach initiatives, the cultivation of collaborative efforts among consortiums, the provision of directives for standardized data collection and analysis, and the promotion of shared methodologies for dissemination and training. Every country is urged to formulate a tailored strategy that aligns with its specific national conditions [32,33]. ...
Inherited anemia continues to pose a significant public health concern on a global scale, owing to its extensive geographical prevalence, substantial patient population, and profound ramifications. Here, we investigated detailed information on inherited anemias (including thalassemias, thalassemias trait, sickle cell disease, sickle cell trait, G6PD deficiency, and G6PD trait) for the period 1990–2019 from the Global Burden of Disease study. Over the course of three decades, there has been a persistent rise in the incidence of inherited anemias worldwide, culminating in a total of 44,896,026 incident cases in 2019. However, the prevalence of inherited anemias has exhibited a consistent downward trend over successive years. Significantly, these inherited anemias primarily impact females, exhibiting a male-to-female ratio of 1:1.88. Among males, the most prevalent inherited anemia is G6PD deficiency, whereas G6PD trait prevails among females. The incidence rates of inherited anemias and their temporal trend exhibited significant variations across different regions, with Central Sub-Saharan Africa displaying the highest incidence rates and Central Latin America experiencing the most substantial decline. The findings of this study suggest a significant correlation between the Socio-Demographic index (SDI) and incidence rates of inherited anemias, particularly in regions with lower SDI levels such as Africa and South Asia. These results contribute valuable insights for the analysis of global trends in the burden of inherited anemias.
... The network aims to show the benefits of NBS and early interventions for children with SCD in SSA countries. [73][74][75] Our study also showed the impact of nutritional supplementation on the clinical outcomes of children with SCD. Malnutrition and SCD are the prevalent non-communicable diseases in SSA, and the effect of poor nutrition is worse among children living with SCD. ...
Objective
Sickle cell disease is a lifelong illness affecting millions of people globally, but predominantly burdensome in sub-Saharan Africa, where most affected children do not live to adulthood, despite available evidence-based interventions that reduce the disease burden in high-income countries.
Method
We reviewed studies evaluating evidence-based interventions that decrease sickle cell disease-related morbidity and mortality among children living in sub-Saharan Africa. We used the Joanna Briggs scoping review methodological framework and grouped identified evidence-based interventions into preventative pharmacotherapeutic agents, newborn screening and comprehensive healthcare, disease-modifying agents, nutritional supplementation, systemic treatment, supportive agents and patient/carer/population education.
Results
We included 36 studies: 18 randomized controlled trials, 11 observational studies, 5 before-and-after studies and 2 economic evaluation studies, with most of the studies performed in West African countries. Included studies suggest evidence-based interventions effectively to reduce the common morbidities associated with sickle cell disease such as stroke, vaso-occlusive crisis, acute chest syndrome, severe anaemia and malaria infection. Evidence-based interventions also improve survival among study participants. Specifically, our review shows hydroxyurea increases haemoglobin and foetal haemoglobin levels, a finding with practical implications given the challenges with blood transfusion in this setting. The feasibility of implementing individual interventions is hampered by challenges such as affordability, accessibility and the availability of financial and human resources.
Conclusion
Our review suggests that regular use of low-dose hydroxyurea therapy, sulphadoxine–pyrimethamine chemoprophylaxis, L-arginine and Omega-3 fatty acid supplementation and establishment of specialist stand-alone sickle cell clinics could reduce the sickle cell disease-associated morbidity and mortality in sub-Saharan Africa countries.
... Interestingly, the prevalence of some HbSC comorbidities in the study by Ghunney et al (see figure) is lower than reported in prior studies in higher-income countries 9 ; this could be a result of survival bias because many children with severe complications die before reaching adulthood in Ghana owing to a lack of early diagnosis and adoption of preventive interventions. As newborn screening and early intervention programs are progressively being implemented, 10 individuals with HbSC will be expected to survive to late adulthood, which will expose them to conventional cardiovascular and age-related morbidity and mortality risk factors in addition to SCD-specific morbidity; the resulting public health challenge in tackling the health care needs of this population may appear daunting, but compelling, nonetheless. ...
... A recent study performed in 5 African countries estimated a 36.4% mortality for children younger than 5 years with SCD. 4 Although this represents a marked improvement from earlier reports of~50% to 90% mortality, such mortality rates are far from acceptable. 5 To narrow this critical gap, ASH established the Consortium for Newborn Screening in Africa (CONSA). 6 The goals of CONSA include the following: to expand access to early (within the first 3 months of life) diagnostic screening for SCD; to model the cost of universal early diagnosis that can be applied to other sub-Saharan African countries; and to evaluate the effectiveness of early diagnosis and early clinical interventions in reducing childhood mortality attributable to SCD. While acknowledging that India and countries in the Middle East share similar challenges, CONSA was established in Africa with an additional goal of facilitating regional partnerships in hematology among these African nations, sharing the best practices and eventually building the capacity to implement clinical trials as the initiative matures. ...
Due to the unique biology of sickle cell disease, as well as the societal disadvantages and racial inequities suffered by these patients, individuals with sickle cell disease have not benefited from the same remarkable advances in care and therapeutics as other hematologic disorders. Life expectancy of individuals with sickle cell disease is shortened by approximately 20 years even with optimal clinical care, and infant mortality continues to be a major concern in low-income countries. As hematologists, we must do more. ASH and the ASH Research Collaborative have instituted a multi-pronged initiative to improve the lives of individuals living with this disease. Here we describe two components of this ASH initiative, the Consortium on Newborn Screening in Africa (CONSA) to improve early diagnosis of infants in low-resource countries, and the Sickle Cell Disease Clinical Trial Network to accelerate the development of more effective therapeutics and care for those with this disorder. The combination of sickle cell disease-focused initiatives, the ASH Research Collaborative, CONSA, and the Sickle Cell Clinical Trials Network, have enormous potential to dramatically alter the course of sickle cell disease worldwide. We believe that the timing is ripe to embark on these critical and worthwhile initiatives and improve the lives of individuals with this disease.
... All patients referred received education, counseling, and penicillin prophylaxis. The pilot program has since been restarted and expanded to other sites in the country [10]. ...
High-income nations have established that early diagnosis and preventive treatment reduces early deaths in sickle cell disease (SCD). However, in low-/middle-income countries where SCD is common, attrition from clinical care is common. Reasons for poor retention in care are multi-factorial and poorly understood. The objective of this study was to identify factors that influence caregiver decision-making around chronic health care needs of a child with SCD. We conducted an exploratory sequential mixed methods study of caregivers of children diagnosed with SCD during a newborn screening program in Liberia. Caregivers completed questionnaires and semi-structured interviews designed to identify drivers of health decision-making. Interviews were digitally recorded, transcribed, coded, and analyzed using semi-structured thematic analysis to identify themes. Data integration occurred by using quantitative results to expand and clarify the qualitative themes. Twenty-six caregivers participated in the study. The mean age of the child at the interview was 43.7 months. Five themes influencing health decisions were identified: grief, the importance of support networks, stigma, perceived benefits, and the burden of chronic disease. The five themes crossed multiple domains of a socioecological model and identified complex interactions between family, community, social and cultural norms, and organizational structures. This study highlights the importance of community awareness of SCD and appropriate health communication by healthcare workers. Healthcare decision-making is multifactorial and complex. These results provide a framework for improving retention in care. In a low-resource country such as Liberia, much can be done by leveraging existing resources and cultural practices.
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.
Background
Sickle cell disease (SCD) affects over 30 million people and is most prevalent in sub-Saharan Africa, India, the Arabian Peninsula, the Caribbean, and North/South America. Globally, people with SCD disproportionately suffer premature deaths, hospitalizations due to acute complications, and significant multi-organ complications. Despite vivid similarities with Cystic Fibrosis (CF), clinical care and research is disproportionately minimal for SCD. Both CF and SCD are inherited, life-limiting, multi-system diseases; however, one mainly affects white people and the other Black people.
Objective
We aim to describe socio-demographics of SCD populations globally and highlight policy limitations and urgently needed changes to achieve equitable and just SCD care and research.
Methods
An electronic database search of Ovid MEDLINE (“sickle cell disease and marginalized people” and “policy in sickle cell disease”) was conducted for the period 1947 to May 2022. Additional information was obtained through Google Scholar, gray literature, and back references of relevant articles. Study selection and quality assessment was conducted independently in duplicate.
Results
Data were extracted from 137 articles, reports, and gray literature. We propose five main actionable items: 1) establish and strengthen national and international screening programs; 2) implement prevention and education programs; 3) enhance collaboration between stakeholders; 4) increase funding for SCD related research; and 5) promote new models for multidisciplinary care.
Conclusions
Globally, social, economic, geographical, and political factors affect access to comprehensive SCD management. Urgent policy changes are needed for equitable, inclusive, and just SCD care and research.
Background: Children with sickle cell anemia (SCA) in Sub-Saharan Africa are at high risk of sickle cerebrovascular injury (SCVI). Hydroxyurea, a commonly used disease-modifying therapy, may prevent or decrease SCVI for reduced incident stroke, stroke risk and potentially cognitive dysfunction. We aim to test the impact of daily hydroxyurea therapy on these outcomes in Ugandan children with SCA. We hypothesize that hydroxyurea therapy over 36 months will prevent, stabilize or improve these complications of SCA.
Methods: The BRAIN SAFE II study is an open-label, single-arm trial of daily hydroxyurea for 270 children with SCA (HbSS) in Uganda, ages 3-9 years. Following baseline assessments, participants began hydroxyurea therapy and clinically followed per local guidelines. Standard hydroxyurea dose is escalated to maximum tolerated dose (MTD). SCVI is assessed by cerebral arterial velocity using Doppler ultrasound, with cognitive function determined by formal neurocognitive testing (primary outcomes). Structural SCVI is assessed by magnetic resonance imaging (MRI) and angiography (MRA) in a sub-sample of 90 participants ages >5 years, along with biomarkers of anemia, inflammation and malnutrition (secondary outcomes). At trial midpoint (18 months) and completion (36 months), primary outcomes will be compared to participants baseline to determine hydroxyurea impact and relationships to secondary outcomes.
Conclusion: This open-label, single-arm trial will examine the impact of hydroxyurea on preventing or ameliorating SCA SCVI in children, assessed by reducing incident stroke, stroke risk and neurocognitive dysfunction. Trial results will provide important insight into the role of hydroxyurea therapy on critical manifestations of SCVI in children with SCA.
