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

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.

Automated summary

Thalassemia is a Mendelian inherited blood disease caused by gene mutations, and it is a major health problem in Mediterranean populations. This study investigated the distribution of gene defects in the Trapani province population and found high frequencies of certain mutations in the alpha and beta globin genes. The findings highlight the importance of carrier screening and prenatal diagnosis, as well as the need for public awareness campaigns and screening programs.