The Consortium on Newborn Screening in Africa for sickle cell disease: study rationale and methodology

Abstract

Sickle cell disease (SCD) is a common condition within sub-Saharan Africa and associated with high under-5 (U5) mortality. The American Society of Hematology instituted the Consortium on Newborn Screening in Africa (CONSA) for SCD, a seven-country network of sites to implement standardized newborn hemoglobinopathy screening and early intervention for children with SCD in sub-Saharan Africa. CONSA's overall hypothesis is that early infant SCD screening and entry into standardized, continuous care will reduce U5 mortality compared to historical estimates in the region. Primary trial objectives are to determine the population-based birth incidence of SCD and effectiveness of early standardized care for preventing early mortality consortium-wide at each country's site(s). Secondary objectives are to establish universal screening and early interventions for SCD within clinical networks of CONSA partners and assess trial implementation. Outcomes will be evaluated from data collected using a shared patient registry. Standardized trial procedures will be implemented among designated birth populations in seven African countries whose programs met eligibility criteria. Treatment protocol includes administering antibacterial and antimalarial prophylaxis and standard childhood vaccinations against infections commonly affecting children with SCD. Infants with a positive screen and confirmation of SCD within the catchment areas defined by each consortium partner will be enrolled in the clinical intervention protocol and followed regularly until age five years. Effectiveness of these early interventions, along with culturally appropriate family education and counseling, will be evaluated by comparing U5 mortality in the enrolled cohort to estimated pre-program data. Here we describe the methodology planned for this trial.

Evidence-based interventions for reducing sickle cell disease-associated morbidity and mortality in sub-Saharan Africa: A scoping review

“…The network aims to show the benefits of NBS and early interventions for children with SCD in SSA countries. [73][74][75] Our study also showed the impact of nutritional supplementation on the clinical outcomes of children with SCD. Malnutrition and SCD are the prevalent non-communicable diseases in SSA, and the effect of poor nutrition is worse among children living with SCD.…”

Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa

“…Unfortunately, many testing facilities in Africa lack quality assurance programmes or have inadequate ones, which can lead to errors in testing and misdiagnosis. 56 Quality assurance programmes not only need specimens with known values to measure along with patient specimens but also involve regular checks of equipment, reagents, and personnel performance, as well as ongoing training and education of staff on quality assurance practices. Quality assurance includes standardisation and harmonisation in testing protocols between laboratories and between countries.…”

Incidence Trends of Inherited Anemias at the Global, Regional, and National Levels Over Three Decades

“…These measures may encompass the establishment of localized or nationwide public health outreach initiatives, the cultivation of collaborative efforts among consortiums, the provision of directives for standardized data collection and analysis, and the promotion of shared methodologies for dissemination and training. Every country is urged to formulate a tailored strategy that aligns with its specific national conditions [ 32 , 33 ].…”