HBB

(redirected from beta-globin)

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 ?
Amplification refractory mutation system-polymerase chain reaction was found to be a very sensitive method to find the known point mutations present in beta-globin gene.
Understanding the control of the developmentally regulated switch of gene expression within the beta-globin locus is a mainly used in today research.
SCD is an inherited disease caused by a mutation in the beta-globin gene that results in sickle-shaped red blood cells.
The most common inherited diseases in humans result from mutations in the beta-globin gene com-plex and the alpha-globin gene complex.
Four protein subunits collectively form a haemoglobin molecule, two beta-globin chains and two alpha globin chains.
Hb E is formed by a substitution of glutamic acid by lysine at codon 26 of the [beta]-globin gene as a result of a splice site mutation on exon 1 of the beta-globin gene.
Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.
In his landmark 1978 study, Kan found that DNA-digesting enzymes cut two variants of the beta-globin gene differently because of a single nucleotide change.
Cleaves the normal beta-globin gene into fragments two.
Kan's laboratory in the United States and had created a new method for the identification of mutations in the beta-globin gene with usage for prenatal diagnosis (1).
It is caused by an inherited mutation in the beta-globin gene that makes red blood cells change from their normal shape, which is round and pliable (like a plastic bag filled with corn oil), into a rigid sickle-shaped cell (like a corn flake).
LentiGlobin introduces a fully functional human beta-globin gene into the patient's own hematopoietic stem cells.