Sickle cell disease: How CONSA drives screening in newborns

Many African countries cannot diagnose and treat genetic diseases, especially those passed from parents to children, health experts have said.

According to the experts, improved education, increased awareness of the importance of newborn screening programmes for Sickle Cell Disease (SCD), and effective leadership will ensure early interventions for children with SCD in sub-Saharan Africa.

On this note, the American Society of Haematology (ASH) has partnered with African-based hematologists and allied health professionals to launch the ASH Consortium on Newborn Screening in Africa (CONSA) , an international network to help change the trajectory.

CONSA has launched newborn screening programmes in seven countries: Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda, and Zambia.

Through the leadership of hematologists 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.

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SCD is an inherited blood disorder that affects red blood cells. However, more than 300,000 babies are born with the disease 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, according to the World Health Organisation (WHO).

“Despite progress made in reducing child mortality and improving health outcomes, many African countries cannot diagnose and treat genetic diseases, those passed from parents to children,” Alexis Thompson, member of the ASH CONSA Steering Committee said.

Thompson, who is also the former ASH president, and head of the Haematology Section at the Ann and Robert H. Lurie Children’s Hospital of Chicago at ASH said prioritising government capacity and funding will increase the number of infants being screened for sickle cell disease across the region.

However, she noted that CONSA aims to partner with sickle cell experts who are based in Africa as well as collaborate with the public sector.

“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,” she added.

The consortium goal further reviews that 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.

Therefore, hematologists and public health officials participating in the consortium have mobilized networks of screening laboratories, SCD or pediatric hematology clinics, teaching hospitals, universities, and satellite clinics to screen babies and provide clinical services. To date, more than 11,000 newborns have been screened.

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.

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.

“Sickle cell disease is a genetic disorder that is inherited due to a mutant hemoglobin gene from both parents. The health burden of hemoglobin disorders can be effectively reduced through diagnostic, management, and prevention programmes, as well as through family counselling and community education,” said Jean-Marie Dangou, coordinator of the Noncommunicable Disease Programme at WHO-regional office for Africa.

Dangou further said that early interventions are implemented quicker to increase chances of survival for babies born with this condition adding that 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.

In the same vein, Kwaku Ohene-Frempong, president of the Sickle Cell Foundation of Ghana, and national coordinator for Ghana, CONSA, also said that collaboration between government, non-governmental organizations, and hematologists to provide the best possible care to newborns.

“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. And that is why we need to continue to promote newborn screening to our government leaders,” he said.

Speaking further on how it can prevent costly and painful health care services, Catherine Chunda-Liyoka, consultant pediatrician at the University Teaching Hospitals-Children’s Hospital, and national coordinator for Zambia, CONSA, said that newborn screening allows us to diagnose 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.

“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,” she said.