Despite progress made in reducing child mortality and improving health outcomes, many African countries do not have the capacity to diagnose and treat genetic diseases, those passed from parents to children. The American Society of Hematology (ASH) has partnered with African-based haematologists and allied health professionals to launch the ASH Consortium on Newborn Screening in Africa (CONSA), an international network that seeks to demonstrate the benefits of newborn screening and early interventions for children with Sickle Cell Disease (SCD) in sub-Saharan Africa.
According to the World Health Organisation (WHO), more than 300,000 babies are born with SCD every year in sub-Saharan Africa, but many do not live past the age of five because they lack access to testing, comprehensive clinical care, and early intervention programmes. To help change this trajectory, CONSA has launched newborn screening programmes in seven countries: Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda, and Zambia. Through the leadership of haematologists and public health officials in these countries, CONSA introduces standard-of-care practices for screening and early intervention therapies (such as antibiotic prophylaxis and immunizations) for SCD.
The goal of the consortium is to screen 10,000 to 16,000 newborns in each country every year for the next five years, and research the long-term benefits of newborn diagnosis and early clinical interventions. Once screened, newborns found to be living with SCD will enter clinical programmes that offer access to necessary medications, education on SCD care for their families, and monitoring of their health needs up to the age of five. Haematologists and public health officials participating in the consortium have mobilized networks of screening laboratories, SCD or paediatric haematology clinics, teaching hospitals, universities, and satellite clinics to screen babies and provide clinical services. To date, more than 11,000 newborns have been screened.
ASH, CONSA leaders, and the WHO held a virtual press conference on Thursday, October 21, 2021 to educate and create awareness of the importance of newborn screening programmes for SCD, and the importance of government leadership to ensure the long-term sustainability of these efforts.
“Our aim in partnering with sickle cell experts who are based in Africa as well as collaborating with the public sector is to prioritise government capacity and funding to increase the number of infants being screened for sickle cell disease across the region. Despite the challenges from COVID-19, we have been able to make great progress in initiating screening and care for children living with SCD, with all seven countries in our consortium set up to screen newborns this year. We hope that the successful launch of these screening programmes and treatment protocols will demonstrate the feasibility of this model and will encourage other nations with a high burden of SCD to take similar steps to diagnose and treat SCD,” said Dr. Alexis Thompson, member of the ASH CONSA Steering Committee, former ASH president, and head of the Haematology Section at the Ann and Robert H. Lurie Children’s Hospital of Chicago.
CONSA newborn screening programmes first launched in late 2020 and two positive cases were immediately identified in Nigeria through newborn screening, and the babies received early intervention therapies, such as penicillin prophylaxis and folic acid, to increase their chances of survival. In early October 2021, CONSA celebrated the first birthday of one of the newborns who was recently featured in Nature. The event included a community celebration and awareness event for SCD screening.
During the session, ASH (as the world’s largest professional society of clinicians and scientists) stated that the success of screening programmes and the promise of progress in the sub-Saharan Africa region will demonstrate the ability to diagnose and treat SCD to improve the long-term health of children with SCD.
Dr. Jean-Marie Dangou, coordinator of the Noncommunicable Disease Programme at WHO-Regional Office for Africa, said: “Sickle cell disease is a genetic disorder that is inherited due to a mutant haemoglobin gene from both parents. The health burden of haemoglobin disorders can be effectively reduced through diagnostic, management, and prevention programmes, as well as through family counseling and community education. This further emphasizes the importance of the newborn screening in children so that early interventions are implemented quicker to increase chances of survival for babies born with this condition. The WHO in the African region looks forward to working with national leaders, civil society organizations, and international partners including ASH CONSA to ensure effective, evidence-based responses are scaled up and all children are reached with life-saving interventions.”
Dr. Kwaku Ohene-Frempong, president of the Sickle Cell Foundation of Ghana, and national coordinator for Ghana, CONSA, discussed the importance of collaboration between government, non-governmental organizations, and haematologists to provide the best possible care to newborns. He said: “Saving the lives of children is a priority in all our countries. Newborn screening for SCD saves lives of children even before the parents know they have SCD. And that is why we need to continue to promote newborn screening to our government leaders. An organization like the American Society of Haematology has a voice that can be heard very loudly, compared to our voices within our own countries. And that’s why we appreciate the CONSA collaboration with the American Society of Hematology.”
The discussion focused on the impact of newborn screening on both the quality of life and how it can prevent costly and painful health care services.
Dr. Catherine Chunda-Liyoka, consultant paediatrician at the University Teaching Hospitals-Children’s Hospital, and national coordinator for Zambia, CONSA, said: “Newborn screening allows us to diagnosis a child very early in life. This ultimately reduces the likelihood of developing complications, making it cheaper to care for such a child through a potentially expensive, lifelong illness. Such a child can be cared for at a low-level health care facility by primary health care providers who can continue to provide the easy to source and implement, low-cost interventions. When these children don’t have complications, they may live most of their lives without going into a specialized hospital, requiring specialized, expensive and complicated care.”
ASH will continue working in partnership with local and country governments, and industry partners like PerkinElmer and Novartis, to provide resources to ensure the long-term sustainability of screening and early intervention efforts and increase hematology capacity throughout sub-Saharan Africa. To learn more, visit https://www.hematology.org/global-initiatives/consortium-on-newborn-screening-in-africa.