Which mutation type is observed in beta-thalassemia?

Beta-thalassemia is primarily associated with mutations that affect the splicing process of pre-mRNA. These mutations can occur at the splice sites, leading to improperly processed mRNA and consequently reduced or absent production of the beta-globin chain of hemoglobin. Such alterations result in an imbalance between alpha and beta globin chains, which is a hallmark of beta-thalassemia.

Splice site mutations can lead to exon skipping or the inclusion of intronic sequences in the mature mRNA, ultimately producing a dysfunctional protein. This disruption significantly impacts the synthesis of hemoglobin and is a common mechanism underlying the genetic pathology of beta-thalassemia. Thus, the observation of splice site mutations in beta-thalassemia aligns with its clinical manifestations and the molecular genetics of the disorder.