Journal d'hématologie et des maladies thromboemboliques
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Newborn Screening for Haemoglobinopathies in Bida, North-Central Nigeria

Folayan OS1*, Bello AO1, Ernest SK2

Background: The global annual population of newborn with structural haemoglobin disorders is estimated at five million and Nigeria accounts for more than 30% of this with under-five mortality from haemoglobinopathies reaching 50%-90%. Despite this huge burden and a 15-fold reduction in deaths from haemoglobinopathies in countries that conduct newborn screening, most sub-Saharan Africa countries do not have a screening program. The widely used diagnostic haemoglobin electrophoresis is also not sensitive for newborn screening.

Objectives: This study was carried out to determine haemoglobin phenotype patterns and frequency in neonates attending routine immunization clinics in Bida, and to identify factors associated with the occurrence of haemoglobinopathy.

Materials and Methods: It was a descriptive cross-sectional study that recruited 254 neonates by multi-staged sampling technique from nine immunisation centres. Heel prick blood sample collected on Guthrie cards were tested using High-Performance Liquid Chromatography (HPLC). The relationship of various risk factors with the occurrence of an abnormal haemoglobin variant was analysed with the Statistical Package for Social Sciences.

Results: 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). There was an almost equal abnormal haemoglobin occurrence in both genders. The majority (89%) of mothers did not know their Hb phenotype, 25% of these had a newborn with an abnormal phenotype and 20% were married in consanguineous marriages. Wrong perception of sickle cell disease was also common.

Conclusion: Abnormal haemoglobin variants were present in more than one-quarter (26.4%) of the neonatal population studied in Bida. Most parents were not aware of their haemoglobin phenotype and had a wrong perception of sickle cell disease. Consanguinity though common in the population did not significantly affect the occurrence of an abnormal haemoglobin phenotype.