By IJEOMA UKAZU
Many young people live with the inherited blood disorder known as Sickle Cell Disease, SCD. A disease that affects red blood cells and often not diagnosed or treated.
Annually, according to the World Health Organisation, WHO Sickle Cell Disease, SCD affects 20–25 million people globally. More than 300,000 babies are born with disease globally but many do not live past the age of five because they lack access to testing, comprehensive clinical care, and early intervention programs.
Of this number, Nigeria accounts for 150, 000 annual births of babies with sickle cell anaemia, making the country the highest birth prevalence of sickle cell disease in the world.
Despite its prevalence, the majority of infants are not screened for SCD in Africa due to limited laboratory capacity, awareness of the disease, and domestic funding. This has generated a great need to create capacity for universal newborn screening and implement clinical interventions for babies with SCD.
Experts say Sickle Cell Disease is an inherited blood disorder that affects red blood cells. Normal red blood cells are round and flexible, which lets them travel through small blood vessels to deliver oxygen to all parts of the body. SCD causes red blood cells to form into a crescent shape, like a sickle.
Continuing, they said sickle-shaped red blood cells break apart easily, clump together, and stick to the walls of blood vessels, blocking the flow of blood, which can cause a range of serious health issues. Individuals with SCD suffer from acute pain episodes and chronic pain and may be affected by various other organ complications, which can cause disability or even death.
In order to improve the quality of life of children with sickle cell disease in sub-Saharan Africa, the American Society of Haematology, ASH in partnership with governments, hospitals, industry partners, and organizations in Africa are targeting to build SCD initiatives to improve the long-term health of children with the disease.
To this effect, the Consortium on Newborn Screening, CONSA for Sickle Cell Disease, 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.
Furthermore, 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.
Speaking during a virtual conference the ASH, CONSA leaders, and the WHO set out 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.
On his part, Coordinator of the Non-communicable Disease Programme at WHO Regional Office for Africa, Dr. Jean-Marie Dangou said, “Sickle cell disease is a genetic disorder that is inherited due to a mutant haemoglobin gene from both parents.
He pointed out that 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.
Dr. Dangou emphasizes 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.
Speaking on the best possible care for children with Sickle Cell Disease, President of the Sickle Cell Foundation of Ghana, and National Coordinator for Ghana CONSA, Dr. Kwaku Ohene-Frempong said, “Saving the lives of children is a priority in all our countries. Newborn screening for SCD saves the lives of children even before the parents know they have SCD. 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.”
He said collaboration between government, non-governmental organizations, and haematologists will provide the best possible care to newborns.
With focus on the impact of newborn screening on both the quality of life and how it can prevent costly and painful health care services, Consultant Paediatrician at the National University Teaching Hospital, and National Coordinator for Zambia CONSA, Dr. Catherine Chunda-Liyoka 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.”
A member of the ASH CONSA Steering Committee and former ASH president Dr. Alexis Thompson said, “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.”
Dr. Thompson who works at the Haematology Section at the Ann and Robert H. Lurie Children’s Hospital of Chicago revealed that, “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.”
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, 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.