Pattern of haemoglobin phenotypes in newborn babies in Ebonyi State, Nigeria: A retrospective study of the newborn sickle cell screening program in a tertiary hospital in Southeast, Nigeria

Abstract

Background: Sickle cell disease is the most common genetic hematologic disorder especially in Sub-Saharan Africa. Newborn screening (NBS) for sickle cell disease is a tool for early disease detection and treatment.
Objective: To report the outcome of newborn screening for sickle cell disease at Abakaliki, Ebonyi state.
Setting: Alex Ekwueme Federal University Teaching Hospital (AEFUTHA),  Ebonyi State.
Design: Retrospective study.
Methods: A two- year period data on sociodemographic characteristics, haemoglobin phenotype of 1,165 babies and parents were obtained from the laboratory register.
Main Outcome measures: Prevalence of haemoglobin (Hb) phenotypes in newborns, couples’ Hb phenotype compatibility.
Statistical analysis: Data were summarized using proportion, mean, median and standard deviation. Chi-square and Fisher’s exact tests were used where appropriate.
Results: A total of 1,165 newborns were screened for hemoglobin phenotype consisting of 589 (50.4%) males and 572 (47.1%) females. Majority, 856 (73.9%) had haemoglobin (Hb) phenotype AA, 283 (24.4%) had AS, 12 (1.0%) and 6 (0.5%) had SS and AD; respectively while SC and AC were (0.1%) each. Nine (0.9%) of the parents who reported a compatible Hb phenotype had newborns with SS. There was a significant difference in Hb phenotype of the newborns of parents with compatible and those with incompatible Hb phenotypes (p <0.001).
Conclusions: The prevalence of SCD (HbSS 1.0% and HbSC 0.1%) is 1.1% among newborns in Ebonyi state. There is a high level of Hb phenotype incompatibility between couples in the state. Public awareness, premarital education and screening of couples are needed.