For patients with sickle cell disease (SCD) living in sub-Saharan Africa, early intervention drastically improves long-term health outcomes, but challenges around funding, training, and accessibility to programs that provide newborn SCD screening has made progress slow.
Global disparities in outcomes for patients with SCD helped drive the creation of the Consortium on Newborn Screening in Africa (CONSA),1 a collaboration between the American Society of Hematology (ASH) and hematologists and public health authorities in sub-Saharan Africa that seeks to demonstrate the effectiveness of newborn screening and early therapeutic interventions for babies with SCD living in the region.
“There are some extraordinary opportunities to look at some fairly fundamental interventions, beginning with diagnosis,” said former ASH President Alexis Thompson, MD, MPH, a member of the CONSA steering committee and hematology section head at Lurie Children’s Hospital. Dr. Thompson also serves as a professor of pediatrics at Northwestern University Feinberg School of Medicine.
Through innovative partnerships like CONSA, which is part of the ASH Sickle Cell Disease Initiative,2 leaders from around the world are working together to create sustainable newborn screening programs, make early treatment interventions a reality, and increase education about SCD.
“I believe that everybody has a part to play, and I think that with the COVID-19 pandemic, we are learning that we are a global village,” said Joy Mburu, MD, from the University of Toronto. Dr. Mburu was a practicing physician in Kenya before moving to Canada in 2015 for a fellowship in pediatric hematology and oncology.
The Epicenter of Sickle Cell Disease
An estimated 1,000 babies are born with SCD each day in sub-Saharan Africa based on the overall population figures in the region and gene frequency of SCD and sickle cell trait in the area.3 Baba Inusa, MBBS, of Evelina London Children’s Hospital in the U.K., referred to the region as the “epicenter” of SCD, accounting for more than 75% of babies born with SCD worldwide each year. Dr. Inusa is the chief investigator of the African Research and Innovative Initiative for Sickle Cell Education (ARISE), an international staff exchange program designed to share best practices related to SCD.
Previous studies have shown that between 50% and 80% of children born with SCD in sub-Saharan Africa will not survive to their fifth birthday, Dr. Thompson noted. “This is in stark contrast to the U.S., where more than 95% of children diagnosed with SCD will live into adulthood,” she said.
A critical factor leading to the significant discrepancy in survival rates and treatment outcomes is later detection of SCD in sub-Saharan Africa.
Dr. Mburu recounted that clinicians in Kenya diagnosed SCD in patients “very late,” often not until the child had a stroke or other serious adverse event that increased mortality risk.
“In North America and European countries, the diagnosis of sickle cell is made at birth, so children get an early start to proper care,” she said, describing it as a “a world of difference.”
Obiageli Nnodu, MD, a professor of hematology and blood transfusion at the University of Abuja in Nigeria and CONSA’s Nigerian National Coordinator, said that most African countries “do not have well established newborn screening programs beyond some limited pilot programs.”
The scarcity of screening programs is often related to a lack of health care funding and trained practitioners, the high cost of equipment and drugs, and an unstable power supply.
“All the equipment and consumables for newborn screening are sourced from outside the continent,” Dr. Nnodu explained. “Many countries do not have the budgetary allocation for newborn screening and lack experienced manpower to run isoelectric focusing electrophoresis and high-performance liquid chromatography machines, making uptake difficult.”
Luke Smart, MD, of Cincinnati Children’s Hospital in Ohio, who spent four years in Mwanza, Tanzania, working at a teaching hospital as part of a global health fellowship with Cornell University, pointed to access and transportation as other significant hurdles.
“More advanced care for SCD is only available at a few large centers, so patients are limited geographically. I think that is common across most of the major centers in sub-Saharan Africa,” Dr. Smart said. “And, even at those centers, what’s available for disease modification is usually limited.”
Health authorities are pushing to expand access to hydroxyurea, but most physicians are hesitant to prescribe the drug without ready access to some form of laboratory monitoring because of its possible impact on blood counts. The treatment also is priced beyond the reach of most families living in sub-Saharan Africa.
“If you can’t modify the disease, it obviously limits the care you can provide,” Dr. Smart added.
Dr. Inusa, who also serves as faculty of Life Sciences & Medicine at King’s College London, said clinicians are hindered by inconsistent policies for SCD control and prevention at the national and state levels.
In Nigeria, the federal government designated six regional sickle cell centers in 2010 and provided each center with diagnostic equipment, such as machines that perform high-performance liquid chromatography. However, he noted that these have not been fully operational “due to a lack of policy and funding.”
Nigeria is now working with the National Institutes of Health (NIH) on projects like the Sickle Africa Data Coordinating Center (SADaCC) and the Sickle Pan-African Research Consortium (SPARCO) to provide health-care workers with training to strengthen data management capabilities and skills.
Treating – and Tracing – the Patient
At the Fantsuam Foundation laboratory in Kafanchan, Nigeria, Dr. Inusa said doctors perform isoelectric focusing electrophoresis on blood samples to identify patients with SCD. Then, those who test positive for the disease in Nigeria are referred to one of three centers for further treatment. Babies will receive oral penicillin, folic acid, and malarial prophylaxis.
Family members of children who have tested positive for SCD are then called for screening and counseling, added Dr. Nnodu.
“Following up with parents of the babies with SCD is one of the many challenges we have encountered,” Dr. Inusa said. “As a result of our experiences, we now have recruited community leaders to help us trace babies after diagnosis.”
When a baby is found to have SCD, “the nurse in charge of the screening program gets a hospital card to make an appointment with the pediatric newborn SCD clinic, then transfers the case to the hospital matron. She will then counsel and educate the parents about SCD and teach them how to look after the baby,” Dr. Nnodu explained, adding that pharmacists also explain the importance of giving penicillin to prevent infections and folic acid to increase erythropoiesis.
Dr. Mburu believes some of the most successful interventions in sub-Saharan African countries have been related to education.
“I believe education of physicians and families about what SCD is and the benefits of early antibiotic prophylaxis and hydroxyurea management are the areas of focus where we have made the most progress,” she said.
Dr. Smart added that the partner he works with locally in Tanzania has devoted a significant amount of time to increasing education and advocacy efforts within the community, through a local support group for SCD, an annual SCD awareness day in their city, and outreach efforts at other hospitals.
The Value of Public-Private Partnerships
Dr. Mburu said partnerships between African nations, international health organizations, and private medical or pharmaceutical companies, as well as assistance from other governments, have been crucial in establishing proper treatment guidelines for children with SCD living in sub-Saharan Africa.
For example, African ministries of health have partnered with major pharmaceutical companies to subsidize the cost of hydroxyurea or provide it at no cost for patients with SCD.4
“This changes the course of disease,” Dr. Mburu said. She also described support from laboratory and testing companies that have developed simple testing programs that can be used for mass newborn screenings.
Dr. Inusa added that these partnerships drive change, build expertise, strengthen academic leadership, raise the standards of care, and increase funding support for research.
Progress With CONSA
In March 2021, CONSA launched its first SCD newborn screening programs in Ghana, Nigeria, Uganda, and Zambia.5
The programs have begun at three sites: the 37 Military Hospital and Greater Accra Regional Hospital in Ghana and the University of Abuja Teaching Hospital in Nigeria.
“We are delighted to have the support of ASH to extend newborn screening for SCD to two of our major hospitals in Accra,” said Kwaku Ohene Frempong, MD, the national coordinator for CONSA in Ghana and president of the Sickle Cell Foundation of Ghana. “Children with SCD born at these two hospitals can now receive treatment that will extend their lives into adulthood.”
Dr. Frempong also urged governments to “follow the lead of CONSA” and screen all babies for SCD.
Three additional countries in the consortium – Kenya, Liberia, and Tanzania – plan to launch screening programs in 2021 as part of CONSA efforts.
“Our hope is to screen between 10,000 and 20,000 babies per country and to get care to those babies who are identified as having SCD as part of that screening process,” Dr. Thompson said. The initiative also plans to enroll young children with SCD in the CONSA database, which ASH and ASH RC support. The longitudinal database will document babies with SCD who were screened and their follow-up clinical care to the age of 5. “That will allow us to demonstrate the real progress that we know can be achieved by linking newborn screening to high-quality care.”
ASH has partnered with PerkinElmer, a screening technology company, to support the screening efforts and provide the necessary infrastructure in each country.
“As mothers deliver their babies in hospitals or bring them to the clinic for their first vaccines, they will be offered the diagnostic screening,” Dr. Nnodu said in the announcement of the initiative’s progress.
Each country will mobilize screening laboratories, SCD or pediatric hematology clinics, teaching hospitals, universities, or satellite clinics to screen newborns each year and each country will independently run their own protocols and data.
“We think that the best way to sustain this program is to ensure that it is integrated into the national health-care priorities in these countries,” Dr. Thompson added, “and so we are advocating that all countries create a national policy for SCD that includes newborn screening.”
Expanding International Efforts
CONSA is not alone in tackling the unique challenges associated with SCD identification and treatment in a resource-limited region like sub-Saharan Africa. The Bill & Melinda Gates Foundation has partnered with Novartis to provide funding support for the discovery and development of a single-administration in vivo gene therapy to cure SCD, according to an announcement earlier this year.6
The Foundation is also collaborating with the NIH to develop affordable, gene-based cures for SCD and HIV. Each organization has pledged $100 million to carry out the bold endeavor, which aims to provide the cures worldwide, according to a 2019 NIH announcement.7
In 2010, the African Society of Human Genetics, NIH, and the Wellcome Trust created the Human Heredity and Health in Africa (H3Africa) consortium to support fundamental research into disease in Africa and create the infrastructure, resources, training, and ethical guidelines necessary to successfully achieve better health outcomes across the continent.8 It recently launched the SickleGenAfrica (Sickle Cell Disease Genomics of Africa) Network to build local capacity for African scientists to study the genomics of SCD on the continent.
While each initiative and partnership takes a unique approach, the goal is the same: to improve health outcomes for patients with SCD.
“Many of us feel a deep sense of passion about ensuring that children in Africa are not left behind and that we do everything we possibly can to ensure they benefit from the experiences in places like the U.S. or the U.K.,” Dr. Thompson said. —By Jill Sederstrom
- American Society of Hematology. Consortium on Newborn Screening in Africa. Accessed April 1, 2021. https://www.hematology.org/global-initiatives/consortium-on-newborn-screening-in-africa.
- American Society of Hematology. ASH Sickle Cell Disease Initiative. Accessed April 1, 2021. https://www.hematology.org/advocacy/sickle-cell-disease-initiative.
- Piel FB, Hay SI, Gupta S, et al. Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions. PLoS Med. 2013;10(7):e1001484.
- Novartis. Novartis expands Africa Sickle Cell Disease program to Uganda and Tanzania. June 18, 2020. Accessed April 1, 2021. https://www.novartis.com/news/media-releases/novartis-expands-africa-sickle-cell-disease-program-uganda-and-tanzania.
- American Society of Hematology. Consortium Initiates Newborn Screening Program for Sickle Cell Disease in Nigeria and Ghana. March 31, 2021. Accessed April 1, 2021. https://www.hematology.org/newsroom/press-releases/2021/consortium-initiates-newborn-screening-program-for-sickle-cell-disease-in-nigeria-and-ghana.
- Novartis. Novartis and Bill and Melinda Gates Foundation collaborate to discover and develop an accessible in vivo gene therapy for sickle cell disease. February 17, 2021. Accessed April 2, 2021. https://www.novartis.com/news/media-releases/novartis-and-bill-melinda-gates-foundation-collaborate-discover-and-develop-accessible-vivo-gene-therapy-sickle-cell-disease.
- National Institutes of Health. NIH launches new collaboration to develop gene-based cures for sickle cell disease and HIV on global scale. October 23, 2019. Accessed April 2, 2021. https://www.nih.gov/news-events/news-releases/nih-launches-new-collaboration-develop-gene-based-cures-sickle-cell-disease-hiv-global-scale.
- H3 Africa. About. Accessed April 1, 2021. https://h3africa.org/index.php/about/.