Haemoglobin Variants and Their Clinical Relevance in a Population Attending a General Hospital in Ebonyi State, South East Nigeria

Haemoglobin variants arising from structural mutations in globin chains are prevalent in Nigerian populations and have significant implications for health outcomes, blood transfusion compatibility, and genetic counselling. This study characterised haemoglobin variants and their clinical associations among patients attending Federal Teaching Hospital Abakaliki, Ebonyi State, South East Nigeria. A cross-sectional study was conducted among 500 patients referred for haemoglobin electrophoresis. Cellulose acetate electrophoresis at alkaline pH was performed on all samples, with confirmatory acid citrate agar electrophoresis for variants detected. Full blood count and clinical data were reviewed from patient records. Haemoglobin AA was the most frequent genotype at 63.8%, followed by HbAS at 23.4%, HbSS at 5.8%, HbAC at 4.6%, HbSC at 1.6%, and HbCC at 0.8%. Children under 15 years represented the largest proportion of HbSS cases. HbSS patients presented with significantly lower haemoglobin concentrations and higher reticulocyte counts. HbAC individuals were generally asymptomatic but showed mild microcytosis. Target cells and sickled erythrocytes were prominent in HbSC and HbSS films respectively. Genetic counselling was inadequate in a majority of carriers identified. The study provides local epidemiological data on haemoglobin variants in Ebonyi State and recommends universal neonatal electrophoresis screening, mandatory premarital genotyping, and strengthened genetic counselling infrastructure across South East Nigeria. Keywords: haemoglobin variants, electrophoresis, sickle cell, haemoglobinopathy, Ebonyi State