Beta-globin (hemoglobin subunit beta) (HBB)

The beta-globin protein, encoded by the **HBB gene** on chromosome 11, is a component of adult hemoglobin (HbA) responsible for binding and transporting oxygen in red blood cells[7][6][3][5]. A single point mutation in the HBB gene (Glu6Val/E6V) causes sickle cell disease (SCD), where the abnormal hemoglobin S (HbS) polymerizes under low-oxygen conditions, distorting red blood cells into a sickle shape[7][3][4]. This leads to chronic hemolytic anemia, vaso-occlusion, pain crises, and multi-organ damage. The HBB gene is the direct molecular target of several drugs and gene therapy approaches, and its mutation is a key biomarker and causal factor in SCD and other hemoglobinopathies[1][2][5][6][7].

Other names

Hemoglobin betaβ-globinHemoglobin subunit betaHBB geneHemoglobin S (mutation form)HbS (sickle mutation form)

Increasing affinity of hemoglobin for oxygen (Voxelotor); Increasing fetal hemoglobin (HbF) production (Hydroxyurea); Reducing sickling/oxidative damage (L-glutamine); Blocking cell adhesion/vaso-occlusion (Crizanlizumab); Correcting HBB mutation (gene editing)