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Point-of-Care Newborn Screening for Sickle Cell Disease at Selected Health Facilities in the Gambia
Samuel Ademola Adegoke1,2, Lamin Makalo1, Adama Sallah1
1Edward Francis Small Teaching Hospital, Banjul, The Gambia.
Insights
Newborn screening for sickle cell disease (SCD) in The Gambia found a prevalence of 1.3% for HbSS and 0.2% for HbSC. This pilot study demonstrates the feasibility of point-of-care testing for early SCD diagnosis in the region.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Sickle cell disease (SCD) is a major cause of childhood illness and death in sub-Saharan Africa.
- Early diagnosis via newborn screening (NBS) and follow-up care can significantly reduce SCD's burden.
- The prevalence of SCD in newborns and the effectiveness of NBS programs are largely unknown in The Gambia.
Purpose of the Study:
- To determine the real-time prevalence of SCD and sickle cell trait in newborns in The Gambia.
- To assess differences in SCD phenotypes across various ethnic groups.
- To evaluate the feasibility of using a point-of-care test (POCT) for SCD newborn screening.
Main Methods:
- A prospective feasibility study screened 1,168 consecutive newborns in eight Gambian hospitals using the HemoTypeSC ELISA-based POCT.
- Babies identified with SCD were retested at ≥6 months using alkaline cellulose acetate hemoglobin electrophoresis (ACAE).
- Data on SCD prevalence and ethnic group distribution were collected and analyzed.
Main Results:
- The study identified a prevalence of 1.3% for homozygous HbS (HbSS) and 0.2% for HbS/HbC (HbSC) among newborns.
- Sickle cell trait (HbAS) was found in 17.5% of newborns.
- HemoTypeSC demonstrated 100% sensitivity compared to ACAE for SCD diagnosis in follow-up testing.
Conclusions:
- This study provides the first real-time prevalence data for SCD and sickle cell trait in Gambian newborns.
- Point-of-care testing for SCD is feasible and effective in Gambian healthcare facilities, paving the way for a national NBS program.
- Early detection and intervention through NBS can mitigate the significant public health impact of SCD in The Gambia.
Abstract:
Sickle cell disease (SCD) contributes significantly to childhood morbidity and mortality in sub-Saharan Africa. Early diagnosis through newborn screening (NBS) and subsequent comprehensive follow-up care will reduce the burden. Up till now, the prevalence of SCD among newborns remains unknown in The Gambia and there is no national NBS programme to address this significant public health issue. We assessed the real-time frequency of SCD in the country and determined differences in the pattern of SCD phenotypes among different ethnic groups. A preliminary prospective feasibility study was done in eight purposively selected hospitals in the seven Health Administrative Regions and Banjul. Consecutive newborn babies delivered or managed in these facilities were screened using HemoTypeSC, a sensitive and specific ELISA-based point-of-care test (POCT). Babies identified as SCD with HemoTypeSC were retested at age ≥6 months using alkaline cellulose acetate hemoglobin electrophoresis (ACAE). Head-to-head comparison between HemoType screening and gold standard HPLC could not be done. 1,168 newborn babies were screened from April 14 to August 12, 2023. Fifteen (1.3%) had homozygous HbS (HbSS), two (0.2%) heterozygous for HbS and HbC (HbSC), 204 (17.5%) had sickle cell trait (HbAS), four (0.3%) heterozygous for HbA and HbC (HbAC), and 943 (80.7%) had normal hemoglobin (HbAA). The 17 with SCD (HbSS and HbSC) comprised of 7 (2.2%) of 324 Fula; 6 (1.4%) of 426 Mandinka; 2 (1.6%) of 125 Jola and 2 (1.3%) of 150 Wolof. Fourteen (82.4%) of the 17 accepted the diagnosis and were enrolled into the SCD program. For these 14, HemoTypeSC had 100% sensitivity with ACAE when repeated at age ≥6 months. In addition to determining the real-time newborn prevalence of SCD and trait in The Gambia for the first time, this pilot study showed that SCD-POCT is feasible in Gambian health facilities.
