Zaccheaus Awortu Jeremiah, Wozi Charles Nanaboemi and Theresa Awortu Jeremiah
AJLHTS: Original Paper DOI –ajlhtsonline.org/doi-org-10-59708-ajlhts-v2i2-2312/
Introduction: Sickle cell disease is an autosomal recessive disorder in which patients inherit one mutated copy of the B-globin gene from each parent. This inheritance results to sickle-shaped red blood cell and associated fragility which results in the destruction of the patients red blood cells. This project was carried out as a population genetic study to determine the frequencies of the haemoglobin haplotypes (A and S) and allelic frequencies with a view to predicting the dynamics of the abnormal genes using a typical African community as a case study.
Materials and Methods: Two hundred and twenty-eight (228) subjects constituted the study population of which one hundred and sixty four (164) were males (28%). Haemoglobin electrophoresis membrane at a pH 8.6 was used to establish the haemoglobin electrophoretic pattern of the study population.
Results: The haemoglobin electrophoretic pattern of the study participants were as follows: Hb AA (60.5%), Hb AS (25.5%) and HbSS (14%). The distribution among males were; HbAA (62.2%), HbAS (29.3%) and HbSS (8.5%). and females: Hb AA (56.3%), HbAS (15.6%), HbSS (28.1%). The HbA haplotype frequency was 0.732 while the HbS was 0.268. the allelic frequencies obtained by Hardy-Weinberg calculation were as follows. HbAA (0.536), HbAS (0.392) and Hb SS (0.072). The x2 value of 29.475 obtained in this study was higher than the 3.84 at 5% significant level, hence, the null hypothesis that the population is not in Hardy-Weinberg equilibrium was accepted..
Conclusion: The study revealed high homozygous HbSS inheritance among females (28.1%) meaning that females are more affected than the males. The frequency of HbAS is expected to increase as this population is not in Hardy–Weinberg equilibrium. More awareness and sensitization is needed in our communities in order to reduce the prevalence of sickle cell anaemia in our African society. Keywords; haplotypes, allelic frequencies, population genetics, Okolobiri, Nigeria.