As a scientist, I have spent countless hours working in labs and peering into microscopes. I am still amazed at what we can discover and learn when studying the physiology of individual blood cells.
Yet, as much as focused research in a lab can captivate me, it’s the opportunity to connect with real people — and see first-hand how our advances in hematology research can improve lives — that sends my spirits soaring.
I’m coming off such a professional high, having recently returned from a trip abroad where the power of science, the leadership of ASH, and the commitment of truly dedicated people working together to help change lives came into sharp focus.
In Lusaka, Zambia, I was joined by ASH Executive Director Marty Liggett, as well as Drs. Nancy Berliner and Enrico Novelli, who serve as co-chairs of the ASH Consortium on Newborn Screening in Africa (CONSA). Together, we had the pleasure and privilege of meeting with African-based hematologists, allied health professionals, and global experts to discuss the progress we are seeing with that initiative. We also participated in the first national SCD Symposium in Zambia led by the Ministry of Health.
Significantly, we were also able to visit one of our hospital sites and hear directly from clinical staff about our effort to offer early interventions for children with sickle cell disease (SCD) in sub-Saharan Africa. It was truly inspiring to see that under very difficult circumstances, highly dedicated local health care professionals are providing great care to affected individuals.
Launched in 2018, with screening initiated in 2020, CONSA is an international network involving seven African countries — Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda, and Zambia — with a goal of demonstrating the benefits of newborn screening programs and early intervention services. The program aims to screen 10,000 babies in each country annually.
Statistics underscore the pressing need. According to the World Health Organization, more than 350,000 babies are born each year with SCD, the majority of whom do not reach the age of 5 due to limited availability of diagnosis and clinical care.
CONSA is determined to change — and is indeed changing — that narrative. It does so by introducing standard-of-care practices for screening and early intervention therapies (such as antibiotic prophylaxis and immunizations) at participating institutions and providing follow-up care for SCD-positive babies.
Since CONSA’s inception, more than 109,000 newborns have been screened, with 1,400 diagnosed with SCD and more than 19,500 diagnosed with the sickle cell trait. That work will continue. Additionally, there is an effort to get more children retained in care. Also, thanks to ASH, there are ongoing initiatives focused on streamlining offline data collection via a mobile app, enhancing government engagement and advocacy, improving drug access, and providing education for health care professionals.
CONSA is just one part of a broader initiative launched by ASH in 2016 to address the daunting global challenge of SCD. The ASH Sickle Cell Disease Initiative includes development of clinical practice guidelines, expansion of education and training efforts, focused federal policy efforts, and establishment of the Sickle Cell Disease Coalition.
In addition to these efforts, the ASH Research Collaborative (ASH RC) SCD Research Network and Data Hub were developed with the mission to improve outcomes for individuals with SCD by expediting therapy development and scientific discovery and facilitating innovation in clinical trial research. CONSA uses the Data Hub to store all data collected from the consortium.
It’s an ambitious agenda, but as I witnessed in Zambia, the effort is already making a difference. There is growing appreciation for the value of newborn screening across much of the continent, and it’s been heartening to see impassioned collaboration between African hematologists and public health services in support of conducting studies and publishing their results.
Where do we go from here? I very much hope that ASH’s efforts in SCD will set a standard for providing the best possible care for other hematologic disorders globally, taking into consideration the locally available resources. My first visit to Africa gives me optimism that we can and will make a difference.
To learn more about this important initiative, I encourage you to read the article titled “The Consortium on Newborn Screening in Africa for sickle cell disease: study rational and methodology,” published in Blood Advances.
