Human beta-globin gene (HBB)

The **human beta-globin gene** encodes the **beta-globin** protein, a critical component of adult hemoglobin found in red blood cells. Hemoglobin is a tetramer composed of two alpha and two beta chains; each chain binds heme to facilitate oxygen transport from lungs to tissues throughout the body. The human β-globin locus on chromosome 11 contains several related genes expressed at different developmental stages. Mutations in this gene cause major inherited disorders such as sickle cell disease—where abnormal hemoglobin S leads to misshapen red cells—and various forms of **beta-thalassemia**, which result from reduced or absent production of functional β-globin chains. Modified versions of the human β-globin gene are being developed for therapeutic purposes using techniques like lentiviral-mediated addition or CRISPR-based correction to restore normal function in patients with these diseases[1][2][3].

Other names

beta globinbeta-globinhemoglobin subunit betahemoglobin, betaHBB_HUMANhemoglobin--beta locus[3]