The population incidence of thalassemia gene variants in Baise, Guangxi, P. R. China, based on random samples

Objective Thalassemia is a monogenic genetic disorder with a high prevalence in populations in the southern region of China. The thalassemia gene prevalence rate in the Baise population in China is high, and several rare gene variants have been detected in the population of this region during routine testing by our study group. To accurately reveal the thalassemia gene variants carried by the population in Baise, and to provide a basis for the formulation of thalassemia prevention and control policies in the region, we conducted a more comprehensive study in a randomly selected population. Results In all, 4,800 randomized individuals were recruited for testing from Baise, and the detection of hot spot thalassemia genetic variants were performed by Gap-PCR and PCR-RDB methods, combined with the relative quantification of homologous fragments and AS-PCR to expand the detection range. The prevalence of thalassemia variants in this population was 24.19%, among which 16.69% of individuals carried alpha-thalassemia gene variants alone, 5.62% carried beta-thalassemia gene variants alone, and 1.88% carried both variants. Conclusions The use of positive primary screening combined with hot spot gene variant detection alone can result in a certain degree of missed detection. In the prevention and control of thalassemia in the region, testing institutions need to pay attention to the detection of rare thalassemia gene variants such as alpha alpha alpha(anti4.2), alpha alpha alpha(anti3.7), -alpha(2.4), -alpha(21.9), beta(-50), beta(-90), and beta(IVS-II-5), to provide more accurate genetic counseling advice to subjects.