Hemoglobin subunit beta gene (HBB)

The **Hemoglobin subunit beta gene (HBB)** encodes the beta-globin protein, a vital component of adult hemoglobin in red blood cells. Hemoglobin consists of four subunits (two alpha and two beta-globin chains), and is responsible for oxygen transport from the lungs to peripheral tissues[2][3]. Mutations in the HBB gene lead to inherited blood disorders such as **sickle cell disease** (due to E6V mutation, resulting in hemoglobin S) and **beta-thalassemia** (due to reduced or absent beta-globin production), both of which cause anemia and a range of systemic complications[2][3][8]. The HBB gene is a major therapeutic target for gene-editing and gene therapy strategies, particularly in hematopoietic stem cells, to achieve long-lasting correction of hemoglobinopathies[1][4][5][7][8][9]. Genome editing approaches (CRISPR/Cas9, AAV vectors) can restore normal beta-globin expression in patient-derived stem cells, with the potential for curative autologous transplantation[1][7][8][9].

Other names

beta-globin geneβ-globin geneβ-globinHb beta chain gene

Induction of fetal hemoglobin (hydroxyurea); Anti-sickling agents (voxelotor); Inhibition of cell adhesion (crizanlizumab); Reduction of oxidative stress (L-glutamine); Gene correction or replacement via genome editing (CRISPR/Cas9); Hematopoietic stem cell transplantation (to provide functional HBB)