Abstract
Introduction: Until 2017, hemoglobinopathy newborn screening (NBS) was not offered in Haiti, a country with about 243,000 births per year. Sickle SCAN is a rapid point-of-care (POC) with lateral flow immunoassay technology, but its role in NBS is unknown. Recently, over 100 dried blood samples from newborns were tested [Nguyen-Khoa T, Ann Biol Clin (Paris), 2018] in France with accurate results. Objective: This work had the objective to be proof-of-concept that a hospital-based NBS program is feasible in Haiti and to examine the role of Sickle SCAN in NBS in a larger sample size. Methods: The Ethics Committee at the Universitaire Justinien Hospital (HUJ) and the Institutional Review Board at the University of Miami approved this study. We formed a Haitian team composed of a pediatrician on staff (RSF), two dedicated NBS nurses, a program coordinator (MV), two community health workers, a laboratory technician (RR), and a data manager (UL). We acquired isoelectric focusing equipment (IEF) and performed NBS from dried blood samples only for the first three months while the technician gained proficiency. Thereafter, we have performed dual screening method with the POC device Sickle SCAN and IEF. Confirmatory testing was obtained with both methods. Data were entered into RED Cap. Results: Beginning in August 2017 until present (June 2018), we have screened 1,800 newborns, of which 10.5% have sickle cell trait, 3.3% have hemoglobin C trait, 0.78% have hemoglobin SS, 0.27% have hemoglobin SC and one child has been confirmed to have sickle beta thalassemia plus. Currently, there are 15 children followed at HUJ, for a SCD incidence of 0.83% (8 SS, 6 SC and 1 S-beta thalassemia+). Before the POC screening was implemented two infants have already died when the mothers were contacted (one who screened positive for FS and another for FC). The POC allows for immediate referral and penicillin prophylaxis for at-risk children until the cases are confirmed. Systemic barriers encountered are the electrical outages and intense heat which impacted IEF performance, material procurement (laboratory materials, NBS materials, oral penicillin) which are dependent of shipments from outside of Haiti.
Conclusions: A hospital-based NBS Program is feasible. SCD is highly prevalent with an incidence of 0.83% among newborns in the population studied. Based on this incidence, we estimate that every year around 2,000 children will be born with sickle cell disease in Haiti. The point-of-care device enhanced the screening program by obtaining immediate screening results and maximizing family notification for confirmatory testing.
Disclosures
No relevant conflicts of interest to declare.
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
