Highlighting Need for Newborn Screening of Sickle Cell Disease in Africa

Annually, more than 300,000 babies in sub-Saharan Africa are born with sickle cell disease but many do not live past the age of five because they lack access to testing, comprehensive clinical care, and early intervention programs. Chiemelie Ezeobi writes that to tackle this, the American Society of Hematology is partnering governments, hospitals, industry partners, and organisations in Africa to build initiatives to improve the long-term health of children with SCD
with the goal of screening 10,000 to 16,000 newborns in each country every year for the next five years

According to the World Health Organisation (WHO), each year, more than 300,000 babies in sub-Saharan Africa are born with sickle cell disease (SCD). However, many do not live past the age of five because they lack access to testing, comprehensive clinical care, and early intervention programs.

Experts posit that the SCD is taking many young lives as the inherited blood disorder, that affects red blood cells, is often not diagnosed or treated. This is despite the fact that with diagnosis and early interventions, we can improve health outcomes, reduce child mortality, and support countries with their sustainable development goals.

Also, 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, experts say, have created a great need to create capacity for universal newborn screening and implement clinical interventions for babies with SCD.

Accordingly, African governments, health care workers, civil society organisations, and parents need to work together to ensure adequate care and support to all living with SCD.

Partnerships

To promote evidence-based sickle cell disease (SCD) programs globally, the American Society of Hematology (ASH) is partnering governments, hospitals, industry partners, and organisations in Africa to build SCD initiatives to improve the long-term health of children with SCD.

Already, the ASH has developed a consortium of seven African countries to implement SCD newborn screening and early intervention programs. The Consortium on Newborn Screening in Africa (CONSA), a consortium comprising African hematologists and international hematology experts, has launched SCD newborn screening programs at clinical sites in Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda, and Zambia with a goal of screening 10,000 to 16,000 newborns in each country every year for the next five years.

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 immunisations) 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 mobilised 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.

Creating Awareness

All these were the crux of a recent media session on “Improving Quality of Life for Children with Sickle Cell Disease”, held via zoom.

At the virtual conference that had
ASH, CONSA leaders, and the WHO in attendance, the goal was 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.

Expatiating, 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 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.

“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.”

Successes
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 emphasises 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 organisations, and international partners including ASH CONSA to ensure effective, evidence-based responses are scaled up and all children are reached with life-saving interventions.”

Importance of Collaboration
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 organisations, 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 organisation 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.”

Newborn Screening
The discussion also 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 specialised hospital, requiring specialised, expensive and complicated care.”

Summarily, ASH pledged continuous 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.

About Sickle Cell Disease
Sickle Cell Disease (SCD) 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.

The 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.

About the American Society of Hematology

The American Society of Hematology (ASH) is the world’s largest professional society of hematologists dedicated to furthering the understanding, diagnosis, treatment, and prevention of disorders affecting the blood.

For more than 60 years, the Society has led the development of hematology as a discipline by promoting research, patient care, education, training, and advocacy in hematology.

ASH publishes Blood (www.bloodjournal.org), the most cited peer-reviewed publication in the field, and Blood Advances (www.bloodadvances.org), an online, peer-reviewed open access journal.