Evaluation of Newborns Screening Laboratory Tests for Sickle Cell Disease and Other Haemoglobinopathies in Tanzania

Affiliation

¹Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania.

²Department of Oncology, University of Oxford, Oxford UK.

³Dar es salaam University College of Education, Dar es salaam, Tanzania.

ABSTRACT.

Background; SCD constitutes to be a major public health problem in Tanzania. NBS for SCD identify infants with SCD at birth and subsequently enroll them into SCD comprehensive care program and it has been reported to reduce early childhood mortality and morbidity due to SCD and increase life expectancy. There are different methods for Newborn screening for SCD such as HPLC, IEF, DNA analysis, sickle scan and hemotype SC that helps in early detection of SCD and other haemoglobinopathies but we are lacking sufficient information on alternative screening methods that can be used for NBS in Tanzania so this study is aiming at investigating the effectiveness and feasibility of NBS laboratory tests.

Aim of the study; To evaluate newborn screening Laboratory assays for sickle cell disease and other haemoglobinopathies in Tanzania.

Methodology; This will be a retrospective and prospective study which will be conducted in Dar es Salaam and Mwanza.1000 newborns and 100 children with SCD under five years old will be enrolled. DBS samples will be collected and analyzed by DNA Analysis, sickle scan, Hemotype SC, HPLC, and IEF. SPSS version 16.0 will be used to analyze data. Statistically, significant tests will be declared at a level of p-value < 0.05.

Progress: Initially we have conducted a pilot of 12 individuals who were screened for SCD and turned out to be carriers ( Hb AS). However these individuals continuously reported to experience painful events. Initial analysis has include Hb subtyping and quantification by HPLC,Sickle scan and HemotypeSC to ascertain indicator for thalassaemia syndrome. Definitive analysis involved sequencing of thalassaemia and SCD associated regions by using Oxford Nanopore Technology and NGS

Expected outcomes; The findings of this study will inform Newborn screening stakeholders on the best point of care screening test and definitive test, in terms of turnaround time and cost. Such findings will assist in planning and scaling up of newborn screening services across the country.

Corresponding Author; HChristopher, Email; hchristopher@blood.ac.tz, Tel; +255762175732.