Abstract
SummaryBackgroundSickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis and enrolment of affected children into a comprehensive care programme. Up to now, this strategy has been greatly impaired in resource-poor countries, because screening methods are technologically and financially intensive; affordable, reliable, and accurate methods are needed. We aimed to test the feasibility of implementing a sickle cell disease screening programme using innovative point-of-care test devices into existing immunisation programmes in primary health-care settings.MethodsBuilding on a routine immunisation programme and using existing facilities and staff, we did a prospective feasibility study at five primary health-care centres within Gwagwalada Area Council, Abuja, Nigeria. We systematically screened for sickle cell disease consecutive newborn babies and infants younger than 9 months who presented to immunisation clinics at these five centres, using an ELISA-based point-of care test (HemoTypeSC). A subgroup of consecutive babies who presented to immunisation clinics at the primary health-care centres, whose mothers gave consent, were tested by the HemoTypeSC point-of-care test alongside a different immunoassay-based point-of-care test (SickleSCAN) and the gold standard test, high-performance liquid chromatography (HPLC).FindingsBetween July 14, 2017, and Sept 3, 2019, 3603 newborn babies and infants who presented for immunisation were screened for sickle cell disease at five primary health-care centres using the ELISA-based point-of-care test. We identified 51 (1%) children with sickle cell anaemia (HbSS), four (<1%) heterozygous for HbS and HbC (HbSC), 740 (21%) with sickle cell trait (HbAS), 34 (1%) heterozygous for HbA and HbC (HbAC), and 2774 (77%) with normal haemoglobin (HbAA). Of the 55 babies and infants with confirmed sickle cell disease, 41 (75%) were enrolled into a programme for free folic acid and penicillin, of whom 36 (88%) completed three visits over 9 months (median follow-up 226 days [IQR 198–357]). The head-to-head comparison between the two point-of-care tests and HPLC showed concordance between the three testing methods in screening 313 newborn babies, with a specificity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC, and a sensitivity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC.InterpretationOur pilot study shows that the integration of newborn screening into existing primary health-care immunisation programmes is feasible and can rapidly be implemented with limited resources. Point-of-care tests are reliable and accurate in newborn screening for sickle cell disease. This feasibility study bodes well for the care of patients with sickle cell disease in resource-poor countries.FundingDoris Duke Charitable Foundation, Imperial College London Wellcome Trust Centre for Global Health Research, and Richard and Susan Kiphart Family Foundation.
Highlights
Sickle cell disease is a globally distributed genetic blood disorder of high prevalence in sub-Saharan Africa.[1]
Added value of this study We showed the feasibility of implementing a newborn screening programme for sickle cell disease based on easy-to-use point-of-care screening tests in multiple primary health-care settings, alongside an immunisation programme in an area of high prevalence, without substantial investment in equipment or staff
Implications of all the available evidence Our study provides evidence for the feasibility of implementation of newborn screening to reduce the burden of sickle cell disease in African countries
Summary
Sickle cell disease is a globally distributed genetic blood disorder of high prevalence in sub-Saharan Africa.[1]. Nigeria has the highest birth prevalence of sickle cell disease in the world, with an estimated 150 000 annual births of babies with sickle cell anaemia, the most common form of sickle cell disease.[2] Children with sickle cell disease have repeated episodes of painful crisis, anaemia, and increased susceptibility to infections, with an estimated 50–90% risk of dying before age 5 years.[3,4] According to WHO estimates, sickle cell disease could account for up to 15% of mortality in children younger than 5 years in Africa,[3] imposing heavy physiological, mental, and financial burdens on affected individuals and their families. With access to penicillin prophylaxis, hydroxy carbamide treatment, and chronic transfusion pro grammes for those at risk of stroke, the outlook for individuals with sickle cell disease has substantially improved in most countries over past decades.[6,7,8,9] These interventions, along with pneumococcal vaccines,[10] which are typically available as part of national immuni sation programmes, rehydration, and health education, e534 www.thelancet.com/haematology Vol 7 July 2020
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