Abstract
In Nigeria, about 150000 babies are born annually with sickle cell disease (SCD), and this figure has been estimated to increase by 100% by the year 2050 without effective and sustainable control strategies. Despite the high prevalence, newborn screening for SCD which allows for early prophylactic treatment, education of parents/guardians and comprehensive management is not yet available. This study explored a strategy for screening in early infancy during the first and second immunization visits, determined the prevalence, feasibility and acceptability of early infant screening for SCD and the evaluation of the HemoTypeSC diagnostic test as compared to the high-performance liquid chromatography (HPLC) gold standard. A cross-sectional study was conducted in two selected primary health care centres in Somolu local government area (LGA) in Lagos, Nigeria. Two hundred and ninety-one mother-infant pairs who presented for the first or second immunization visit were consecutively enrolled in the study following written informed consent. The haemoglobin genotype of mother-infant pairs was determined using the HemoTypeSC rapid test kit. Confirmation of the infants' Hb genotype was done with HPLC. Data were analysed with SPSS version 22. Validity and Predictive value of HemotypeSC rapid screening test were also calculated. Infant screening for SCD was acceptable to 86% of mothers presenting to the immunization clinics. The prevalence of SCD among the infant cohort was 0.8%. The infants diagnosed with SCD were immediately enrolled in the paediatric SCD clinic for disease-specific care. The HemoTypeSC test had 100% sensitivity and specificity for sickle cell disease in early infancy compared to HPLC. This study affirms that it is feasible and acceptable for mothers to implement a SCD screening intervention program in early infancy in Lagos State. The study also demonstrates the utility of the HemotypeSC rapid testing for ease and reduced cost of screening infants for SCD.
Highlights
Sickle cell disease (SCD) is an autosomal recessive genetically transmitted hemoglobinopathy responsible for significant morbidity and mortality [1, 2]
This study explored a strategy for screening in early infancy during the first and second immunization visits, determined the prevalence, feasibility and acceptability of early infant screening for SCD and the evaluation of the HemoTypeSC diagnostic test as compared to the high-performance liquid chromatography (HPLC) gold standard
Whereas only 23% of the mothers stated that soon after birth is the most appropriate time to screen, about 36% felt that the most appropriate time should be within the first month of birth while almost all, 283 (97.3%) stated their willingness to enrol their infants in SCD clinic immediately if found to have SCD after screening
Summary
Sickle cell disease (SCD) is an autosomal recessive genetically transmitted hemoglobinopathy responsible for significant morbidity and mortality [1, 2]. The burden of SCD in sub-Saharan Africa is expected to increase to 88% of worldwide cases by 2050 but despite the high prevalence, newborn screening programmes are not widely available [7,8,9]. In 2006, the World Health Organization (WHO) acknowledged SCD as a disease with high global impact and a remarkable public health significance in Africa with a greater need for attention to improve the overall child survival rate [10]. About 465,000 babies are born yearly with significant disorders of haemoglobin (Hb) of which 401,000 are SCD worldwide [7]
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