Molecular Classification
Globin, Hemoglobin subunit
Other Names
Hemoglobin subunit beta, Beta-globin chain, Hgb beta
Disease Roles
Beta thalassemiaSickle cell diseaseHemoglobin C disease

Beta-globin Overview

Beta-globin (HBB) is a critical component of adult hemoglobin (HbA), responsible for oxygen transport in red blood cells. Mutations in the HBB gene can lead to various hemoglobinopathies, including beta thalassemia and sickle cell disease, resulting in anemia and other clinical manifestations. The gene is located on chromosome 11 and its expression is tightly regulated during development.

Mechanism of Action

N/A

Biological Functions

Oxygen transport
Carbon dioxide transport
Heme binding

Disease Associations

Beta thalassemia
Sickle cell disease
Hemoglobin C disease
Hemoglobin E disease
Methemoglobinemia
Anemia

Safety Considerations

  • Therapeutic gene editing carries risks of off-target effects.
  • Recombinant hemoglobin may elicit immune responses.
  • Maintaining proper alpha/beta globin chain balance is crucial to avoid aggregation and ineffective erythropoiesis.

Associated Biomarkers

Biomarker
HbA levels
HbS levels
HbC levels
HbE levels
Beta-globin mRNA levels
Alpha/Beta globin chain ratio