Determination of the Frequency of HBB (c.20 A > T) Gene Mutation in the Nigerian and Zimbabwean Populations in Northern Cyprus

Abstract

Sickle cell disease (SCD) is one of the most frequently observed monogenic diseases and is a major health problem worldwide. It is particularly prevalent in some countries such as Africa, the Middle East and the Mediterranean region. Due to a single point mutation in the beta-globin gene HBB (c.20 A > T), the glutamic acid is replaced by valine amino acid at the sixth position of the beta-globin chain (p.Glu6Val), which leads to changes in the properties of the hemoglobin protein and affects the conformation of red blood cells. Importantly, the distribution of the sickle hemoglobin (HbS) allele varies worldwide. Without knowing the distribution of this allele, the true significance of this gene mutation for SCD is unknown. The aim of this study is to determine the frequency of the HBB (c.20 A > T) gene mutation in the Nigerian and Zimbabwean populations in Northern Cyprus. Blood samples were collected from 208 volunteers (100 Nigerians and 108 Zimbabweans) living in Northern Cyprus. DNA was extracted from peripheral leukocytes. Genotyping was performed by real-time polymerase chain reaction (RT-PCR). The distribution of the allele and genotype frequencies of the HBB (c.20 A > T) gene mutation were tested for Hardy-Weinberg equilibrium. Notably, the distribution of the HBB (c.20 A > T) gene mutation in the Zimbabwean population was found to be in agreement with Hardy-Weinberg equilibrium (p > 0.05), suggesting a consistent allele frequency in this group. Particularly, the frequency of the HbS allele was determined to be 25% and 12.5% in the Nigerian and Zimbabwean populations, respectively. In summary, the results of this study have contributed to the literature by determining the frequency of the HBB (c.20 A > T) gene mutation in the Nigerian and Zimbabwean populations. This is crucial for understanding the true significance of this particular gene mutation for SCD in these two populations, which may also shed light on the development of better structured and preventive strategies.