HBB

(redirected from beta globin chain)

HBB

A gene on chromosome 11p15.5 that encodes beta haemoglobin, which transports O2 in the circulation.

Molecular pathology
HBB mutations cause sickle cell anaemia, Heinz body anaemia, and various forms of beta thalassaemia.
References in periodicals archive ?
Sickle cell disease is a genetic disorder affecting the beta globin chain of adult hemoglobin, which results in distorted, rigid sickle red blood cells, which block blood vessels, causing lack of oxygen to tissues, acute episodes of pain (pain crises), lung injury (acute chest syndrome), and strokes.
Beta thalassemias are among the most common genetic blood disorders worldwide, in which patients are unable to produce normal amounts of the beta globin chain of adult hemoglobin, with consequent rapid destruction of red blood cells and their progenitors, and moderate to severe, transfusion-dependent anemia.
Hemolytic anemia develops in direct proportion to the deficiency of the beta globin chain that cannot be produced in thalassemia sufferers [3-6].
Here, the author performs a basic bioinformatic analysis to assess the effect of co-expression between nucleic acid sequence for human Hb S beta globin chain and U7.
The cause is an inherited defect in the synthesis of one of the alpha or beta globin chains.
Hemoglobin H is a tetramer of beta globin chains, produced in states of very reduced or absent production of alpha globin chains.
Hemoglobin (the protein in red blood cells that carries oxygen to the body) is composed of equal amounts of alpha and beta globin chains.
This disorder arises from mutations in the gene on chromosome 11, which encodes the globin polypeptide subunits of hemoglobin, resulting in impaired production of beta globin chains [2].