Description

The HBB gene encodes the beta-globin protein, a subunit of the haemoglobin, which is located inside red blood cells. In adults, haemoglobin normally consists of four protein subunits: two subunits of beta-globin and two subunits of alpha-globin, which is produced from another gene called HBA. Each of these protein subunits is bound to an iron-containing molecule called heme; each heme contains an iron molecule in its centre that can bind to one oxygen molecule. Hemoglobin within red blood cells binds to oxygen molecules in the lungs. These cells then travel through the bloodstream and deliver oxygen to tissues throughout the body. Mutations in the HBB gene have been found to cause beta thalassemia and sickle cell anemia (Steinberg and Adams, 1982).

External Information

Click here for more information about the HBB (whole gene sequencing) genetic test.