by Kim Krisberg
In the US, nearly all children born with sickle cell disease survive into adulthood. Across the globe in sub-Saharan Africa, more than half of babies born with the genetic condition don’t survive until their fifth birthdays.
A major reason for the stark disparity is the region’s lack of newborn screening capacity, which allows for early detection and medical intervention. Here in the US, state public health laboratories automatically test babies for a number of genetic and metabolic disorders, including sickle cell disease, as part of their universal newborn screening programs. In sub-Saharan Africa, however, diagnostic and treatment capacity is severely limited, despite the region being home to more than 75% of the disease’s global burden.
Researchers estimate that about 240,000 babies are born with sickle cell disease in sub-Saharan Africa every year, with studies estimating that at least half of such children die before age five (though research finds the under-five mortality rate related to sickle cell disease in the region could be as high as 90%). Globally, the number of people with sickle cell disease is expected to grow by 30% by 2050. Early detection and diagnosis is critical to pushing that child mortality rate down, but to date, no country in sub-Saharan Africa has been able to establish universal newborn screening for any disease, including sickle cell disease.
Sickle cell disease is an inherited red blood cell disorder in which abnormally shaped red blood cells block the adequate flow of blood and oxygen throughout the body. The disease causes a number of adverse and debilitating effects, including anemia, chronic pain, delayed growth, vision problems and more frequent infections. The disease is manageable with access to relatively easy, low-cost interventions, such as folic acid supplementation, vaccines and antibiotics, pain treatment, dietary changes and high fluid intake.
“This is the same disease we screen for here in the US and we know that if we’re able to detect it early enough and provide the right treatment — prophylaxis penicillin and folic acid — it increases their chances of having a normal life enormously,” says Jelili Ojodu, MPH, director of newborn screening and genetics at APHL. “Sickle cell disease doesn’t have to be a death sentence, as it is now in these countries.”
This summer, the Sickle Cell Disease Coalition — APHL is a member of its steering committee — released a new public service announcement directing viewers to a library of global resources on sickle cell disease screening sites and treatment centers in African regions. Also unveiled was an eight-minute documentary from the American Society of Hematology on sickle cell disease newborn screening efforts now underway in Ghana and how families impacted by sickle cell disease can access appropriate care.
For more than a decade, APHL has been working with providers and health officials in sub-Saharan Africa to institute newborn screening for sickle cell disease, providing technical assistance and guidance on testing methodologies, facilitating relationships with laboratory vendors and in some cases, providing hands-on training in validating lab instruments. The goal, Ojodu said, is to help countries take the first steps in the slow scale-up toward universal newborn screening and foster small pilot projects that expand the evidence base and justification for further investment. For example, in Ghana, where sickle cell disease is endemic, APHL partnered with the Centers for Disease Control and Prevention and the Sickle Cell Foundation of Ghana to offer technical assistance on a variety of related screening activities, such as needs assessments, genetic counseling and educating providers and parents. The initiative, launched in 2011, began with a survey of community needs, which revealed a gap in the availability of genetic counselors who specialize in sickle cell disease.
In turn, APHL led a 2013 workshop on developing a sickle cell disease counselor training and certification program in Ghana, where participants helped tailor a culturally competent training program specific to the needs of Ghana’s communities. Then in 2015, APHL put together a curriculum and trained the first 15 counselors using the new Genetic Education and Counseling for Sickle Cell Conditions in Ghana. A second training workshop took place in Ghana in the summer of 2016.
In all, Ojodu said, APHL has worked with providers in about a half-dozen African nations to improve sickle cell disease outcomes and newborn screening, including Mali, Kenya, Nigeria, Liberia, Uganda and Tanzania. The work, he said, has shown that newborn sickle cell disease screening and counseling in sub-Saharan Africa is possible — the real sticking point is securing the funding and support to shift from small pilots at hospitals and universities to population-wide screening. (He added that most sickle cell disease screening in sub-Saharan Africa is happening in hospital labs, which he said might be the preferred setting for such newborn screening in the region, as public health agencies there must focus their limited resources on considerable communicable disease threats.)
In Ghana, Ojodu noted, providers use the same technology to screen for sickle cell disease as labs do in the US, which underscores the adaptability of current sickle cell disease screening techniques to a variety of settings.
“If we can do it here, they can do it there,” Ojodu said. “Of course, it will take time and coordinated efforts. It’s really a slow build-up of justifying that No. 1, this saves lives, and No. 2, it can be done.”
Venée Tubman, MD, MMSc, a member of the African Newborn Screening and Early Intervention Consortium, which came out of the American Society of Hematology’s Sickle Cell Disease Working Group on Global Issues, noted that a number of attempts have been made to start newborn screening programs in sub-Saharan African, but also reported that no country has yet succeeded in adopting a universal screening effort. She noted that based on progress in sickle cell disease survival rates in the US — where about 96% of babies with sickle cell disease now survive into adulthood — it’s reasonable to believe that similar improvements can be achieved for children in sub-Saharan Africa with the expansion of early detection and treatment. For instance, in the US, CDC reports that with the introduction of pneumococcal disease vaccination, sickle cell disease related deaths among black children younger than four dropped by 42% between 1999 and 2002.
“That fact that we were able to implement some basic measures and increase survivability pretty dramatically leads me to believe that, yes, most of these deaths are preventable,” said Tubman, an assistant professor in pediatrics at Baylor College of Medicine.
She added that the existence of the consortium and the Sickle Cell Disease Coalition speaks to the progress being made to boost early detection and intervention in sub-Saharan Africa.
“Even beginning to strategize and organize around this problem — the infrastructure limitations and the myth and perceptions around sickle cell — is a sign of progress,” Tubman said. “We have a long way to go, but at least we’re on the road.”
Ojodu noted that with the elimination of CDC funding for global newborn screening development, APHL is looking for new funding partners to continue its work abroad.
“This is possible,” he said, referring to improving sickle cell disease survivability rates in sub-Saharan Africa. “We can affect change there just like we did in the US.”
*Header photo is a screenshot from the Sickle Cell Disease Coalition’s “Global Sickle Cell Disease Public Service Announcement.”
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