HBB Gene Must Hurt by Beta Thalassemia

Beta-Thalassemia

Beta Thalassemia is actually due to mutations in the HBB gene on chromosome 11,also inherited in an autosomal, recessive fashion. The severity of the disease depends on the nature of the mutation. Mutations are characterized as either βo or β Thalassemia major if they prevent any formation of β chains, the most severe form of β-Thalassemia; as either β+ or β Thalassemia intermedia if they allow some β chain formation to occur; or as β Thalassemia minor if only one of the two β globin alleles contains a mutation, so that β chain production is not terribly compromised and patients may be relatively asymptomatic.