BETA THALASSEMIA 6 MUTATIONS (3 FAMILY MEMBERS)

Description

Beta thalassemia is a genetic blood disorder caused by mutations in the HBB gene, which is responsible for producing beta globin, a component of hemoglobin. These mutations lead to reduced or absent beta globin production, resulting in an imbalance between alpha and beta globin chains, ineffective erythropoiesis (red blood cell production), and chronic anemia. The severity of beta thalassemia varies, with three main clinical forms: major, intermedia, and minor.