What does the beta-globin gene do?

The beta globin protein is one of the subunits of hemoglobin, a protein necessary for the oxygen-carrying function of red blood cells. People with the sickle cell mutation in both copies of the HBB gene produce proteins that clump together and lead to changes in the shape and behavior of red blood cells.

What is the beta-globin gene locus?

The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin. This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin.

What happens to beta-globin in sickle cell?

In people with sickle cell disease, at least one of the beta-globin subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia (also called homozygous sickle cell disease), which is the most common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin.

Is beta-globin dominant or recessive?

In a small percentage of families, the HBB gene mutation is inherited in an autosomal dominant manner . In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia.

What is the normal healthy function of the β-globin gene?

Normal Function The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells.

What is the difference between alpha globin and beta globin?

Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. In adults, hemoglobin normally consists of four protein subunits: two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA.

What is the mutation in the beta globin gene that leads to sickle cell?

Sickle cell disease The mutation that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin. Specifically, the amino acid glutamic acid is replaced with the amino acid valine at position 6 in beta-globin, written as Glu6Val or E6V.

Which globin chain is affected in sickle cell anemia?

Abstract. Sickle cell disease (SCD) is a structural and monogenetic genetic disorder due to a mutation that occurs in the globin β-chain, resulting in the formation of hemoglobin S (Hb S), a protein composed of two normal, and two β-type mutant chains.

Is beta globin a protein?

What chromosome is the beta globin gene located on?

The β-globin gene cluster occupies a region of approximately 17 kb on the short arm of chromosome 11. Each of its constituent genes, their flanking regions, and large stretches of the regions between them have been sequenced.

How many exons are in beta globin gene?

The β-globin gene has three exons, and each exon is in a different reading frame.