NEWBORN SCREENING FOR HAEMOGLOBINOPATHIES IN BIDA, NORTH-CENTRAL NIGERIA.

Background: The annual newborn population with structural haemoglobin disorders is estimated at five million globally. Nigeria accounts for over 30% of this and has a high under-five mortality rate from undiagnosed haemoglobinopathies. Newborn screening and comprehensive care significantly improve outcomes, but this is not routine in Nigeria where Hb electrophoresis is used for diagnosis. Objectives: This study determined haemoglobin phenotype patterns and frequency in neonates attending immunization clinics in Bida community, and identified factors associated with the occurrence of haemoglobinopathy. Method: It was a descriptive cross-sectional study that recruited 254 neonates by multi-staged sampling technique from nine immunization centres. Haemoglobin phentype was determined using High-Performance Liquid Chromatography (HPLC) testing of dried blood spot samples. The Statistical Package for Social Sciences was used to analyse the relationship between abnormal variants and identified factors. Result: The Hb phenotypes found in this study were HbFA- 73.6% (187/254), HbFAS- 23.2% (59/254), HbFAC- 1.6% (4/254), HbFS- 1.2% (3/254), and HbFAD-0.4% (1/254). The frequency of an abnormal variant was equal in both genders. The majority (89%) of mothers did not know their Hb phenotype, 25% of these mothers had a newborn with an abnormal phenotype, and 20% were married in consanguineous marriages. Conclusion: Abnormal haemoglobin variants were present in more than one-quarter (26.4%) of the studied population. Most parents were unaware of their haemoglobin phenotype and also had a wrong perception of sickle cell disease. Consanguinity did not significantly affect the occurrence of an abnormal haemoglobin phenotype.