ASH Newborn SCD Screening Program in Sub-Saharan Africa Found Feasible

Dec 8, 2024

Program is implementable and scalable despite resource and disease burden challenges

(SAN DIEGO, Dec. 8, 2024) — A multi-country newborn screening program for sickle cell disease (SCD) in sub-Saharan Africa proved feasible despite resource constraints and a high SCD burden, according to two studies presented today at the American Society of Hematology (ASH) 2024 Annual Meeting, held in San Diego.

SCD, a disorder characterized by misshapen blood cells that block blood vessels, leading to severe pain, as well as damage to tissues and organs, is a leading cause of death for children under five living in sub-Saharan Africa, a region of the world that accounts for more than 75% of the global SCD burden.

“Early diagnosis of SCD is important for these children as it allows for therapeutic interventions that can forestall complications, improving quality of life and longevity of children,” said the study’s lead author, Bernard Awuonda, MD, a hematologist at Jaramogi Oginga Odinga Teaching and Referral Hospital in Kisumu, Kenya. These interventions may include access to life-saving therapies like folic acid, penicillin, or hydroxyurea, the standard-of-care treatment for SCD.

ASH established the Consortium on Newborn Screening in Africa (CONSA), which spans seven countries in sub-Saharan Africa, to implement standardized newborn screening and early clinical management for children with SCD. To demonstrate the feasibility of CONSA, Dr. Awuonda led a study assessing initial diagnostic screening results, while a second study, led by Charles Kiyaga, PhD, of Central Public Health Laboratories in Kampala, Uganda, outlined six strategies ASH and its partners used to build local capacity and infrastructure for the program.

In the first study, Dr. Awuonda and his team evaluated results from the 10 CONSA screening centers established across Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda, and Zambia. Blood samples were collected through heel prick in newborns and young infants at local hospitals and clinics; dried blood spots were then prepared and transported to a central laboratory for testing using standardized isoelectric focusing techniques, which allow scientists to identify abnormal types of hemoglobin, the protein in red blood cells that carries oxygen, that are associated with SCD.

As of April 2024, 73,903 dried blood spot samples were tested and scored before being uploaded to the CONSA database. Of those, 11,281 (15.43%) samples were positive for sickle cell trait, when an individual carries one sickle cell gene, but does not have SCD. SCD was identified in 1,055 (1.44%) of samples, with 392 of those identified cases undergoing confirmatory testing.

In the second study, Dr. Kiyaga and his team outlined six measures that were used to build CONSA’s local capacity and infrastructure to ensure accurate diagnosis of SCD:

  • Public private partnerships: ASH engaged with Revvity to facilitate the subsidized procurement of uniform testing equipment and reagents for all laboratory sites. ASH also worked with Novartis to develop an app for capturing data electronically.
  • Standard procedures: ASH members of the CONSA Laboratory and Diagnostics subcommittee prepared standardized procedures covering the diagnostic process. Additionally, a central laboratory was designated at each site to test all samples collected from surrounding facilities.
  • Staff empowerment: The national coordinator of each country recruited laboratory staff who underwent training and mentorship to effectively test samples, including refresher training workshops that allowed staff to network with peers.
  • Quality control: Samples are interpreted independently by two staff members and ASH subcommittee members perform spot checks and written feedback to discuss errors and institute corrective actions. Each sample that tests positive for SCD is verified by repeat testing.
  • Site visits: ASH subcommittee members visited each site to gain insight into local conditions and challenges.
  • ASH staff support: Since CONSA’s inception, ASH staff have provided logistic and administrative support to ensure efficient functioning.

“Before CONSA, most of the participating countries had no experience or minimal experience with newborn screening, which was mostly confined to research institutions,” said Dr. Awuonda. “However, we were able to demonstrate the feasibility of implementing and scaling up newborn screening services for SCD across this region. We are continuing to collaborate with existing programs within these communities to make our voices louder and our impact even stronger and more far-reaching.”

CONSA’s ongoing efforts include locating and enrolling children confirmed to have SCD into clinical care. Additionally, further steps are underway to increase the efficiency of SCD diagnosis by using point-of-care devices to confirm diagnosis in the clinic, combat misinformation and stigmas associated with an SCD diagnosis to encourage higher rates of testing and clinical care, and improve access to hydroxyurea and other key SCD therapies.

For more information on CONSA, visit https://www.hematology.org/global-initiatives.

The American Society of Hematology (ASH) (hematology.org) is the world’s largest professional society of hematologists dedicated to furthering the understanding, diagnosis, treatment, and prevention of disorders affecting the blood. Since 1958, the Society has led the development of hematology as a discipline by promoting research, patient care, education, training, and advocacy in hematology.

The Blood journals (https://ashpublications.org/journals) are the premier source for basic, translational, and clinical hematological research. The Blood journals publish more peer-reviewed hematology research than any other academic journals worldwide.

Claire Whetzel, 202-629-5085
cwhetzel@hematology.org