A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era

Abstract

Thalassemia is a Mendelian inherited blood disease caused by alpha- and beta-globin gene mutations, known as one of the major health problems of Mediterranean populations. Here, we examined the distribution of alpha- and beta-globin gene defects in the Trapani province population. A total of 2,401 individuals from Trapani province were enrolled from January 2007 to December 2021, and routine methodologies were used for detecting the alpha- and beta-globin genic variants. Appropriate analysis was also performed. Eight mutations in the alpha globin gene showed the highest frequency in the sample studied; three of these genetic variants represented the 94% of the total alpha-thalassemia mutations observed, including the -alpha 3.7 deletion (76%), and the tripling of the alpha gene (12%) and of the alpha 2 point mutation IVS1-5nt (6%). For the beta-globin gene, 12 mutations were detected, six of which constituted 83.4% of the total number of beta-thalassemia defects observed, including codon beta 039 (38%), IVS1.6 T > C (15.6%), IVS1.110 G > A (11.8%), IVS1.1 G > A (11%), IVS2.745 C > G (4%), and IVS2.1 G > A (3%). However, the comparison of these frequencies with those detected in the population of other Sicilian provinces did not demonstrate significant differences, but it contrarily revealed a similitude. The data presented in this retrospective study help provide a picture of the prevalence of defects on the alpha and beta-globin genes in the province of Trapani. The identification of mutations in globin genes in a population is required for carrier screening and for an accurate prenatal diagnosis. It is important and necessary to continue promoting public awareness campaigns and screening programs.