Hemoglobin Beta Chain (HBB)

The hemoglobin beta chain (HBB) is a subunit of the adult hemoglobin protein (HbA), essential for oxygen transport in red blood cells. Mutations in the HBB gene can lead to hemoglobinopathies such as sickle cell disease and beta-thalassemia. HBB modulators aim to treat these diseases by directly interacting with the mutant or wild-type protein to alter its function or by modulating its expression. These modulators include small molecules that stabilize specific conformational states and agents that upregulate fetal globin genes. The main therapeutic goal is to reduce the frequency/severity of pain crises, prevent complications, and improve quality-of-life metrics in patients with hemoglobinopathies.

Other names

Beta-globinHBB gene productHemoglobin subunit beta

Direct binding to mutant or wild-type β-globin chains to stabilize specific conformational states; Modulating expression at the genetic level, upregulating fetal globin genes, gene editing approaches