Hundreds of HBB gene variants (also called mutations) have been found to cause beta thalassemia. Most of the variants involve a change in a single DNA building block (nucleotide) within or near the HBB gene. Other variants insert or …

Dec 25, 2024 · HBB (Hemoglobin Subunit Beta) is a Protein Coding gene. Diseases associated with HBB include Sickle Cell Disease and Beta-Thalassemia, Dominant Inclusion Body Type. Among its related pathways are Innate Immune System and Erythrocytes take up carbon dioxide and release oxygen.

β-globin is encoded by the HBB gene on human chromosome 11. Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria.

6 days ago · The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia.

Dec 20, 2023 · The Hbb gene, also known as the hemoglobin subunit beta gene, is a crucial gene involved in the production of hemoglobin, a protein responsible for oxygen transport in red blood cells. While its main function is related to erythrocyte physiology and hemoglobin production, emerging evidence suggests that the Hbb gene may play a role in ...

Sep 28, 2000 · HBB is contained within the HBB gene cluster, which includes HBD, HBG1, HBG2, and an HBB pseudogene, HBBP1. HBB encodes hemoglobin subunit beta. The heterodimeric protein hemoglobin A (HbA) is made up of two alpha globin chains and two beta globin chains.

the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S (HbS). In people with this condition, hemoglobin S replaces both beta-globin subunits in hemoglobin. The variant that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin.

The HBB gene, on chromosome 11, codes for beta-globin protein. Two molecules of beta-globin combine with two molecules of alpha-globin to form hemoglobin. Hemoglobin protein is a major part of red blood cells. It gives blood its color and allows it to carry oxygen.

β-thalassemia is a hereditary hematological disease caused by over 350 mutations in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) production combined with the α-globin genotype provides some prediction of disease severity for β-thalassemia.

Sep 14, 2016 · 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.