Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major

The molecular investigation of β-thalassemia patients in Duhok showed a significant level of genetic variability in the β-globin gene and a high prevalence of compound heterozygosity among the β-thalassemia patients. The finding of several new variants is significant since it adds to the current mutation database and broadens the known mutational spectrum of the β-globin gene in this community. It also supports the necessity of thorough molecular diagnostics in regional management, screening, and genetic counseling of β-thalassemia.