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.
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Editas Medicine announced results from a follow-up study to assess two different CRISPR genome editing strategies, one targeting the BCL11A erythroid enhancer and one targeting the beta-globin locus, for the treatment of sickle cell disease and beta-thalassemia.
The gene therapy is said to work by adding functional copies of a modified form of the beta-globin gene (betaA-T87Q-globin gene) into a patient's own blood stem cells.
The UMass study used a similar gene editing protocol to target forms of beta-thalassemia that involve splicing mutations--errors in bits of DNA near the beta-globin gene that change how the gene is read out to assemble beta-globin protein.
(1) HbS is caused by a single missense variation in the beta-globin gene leading to a glutamic-to-valine substitution at the sixth residue of beta-globin polypeptide.
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.
The most common inherited diseases in humans result from mutations in the beta-globin gene com-plex and the alpha-globin gene complex.
Sickle cell disease (SCD) refers to a group of autosomal recessive disorders characterized by hemoglobin S variant of the beta-globin gene.
Sampietro et al., "Association of thalassaemia intermedia with a beta-globin gene haplotype," British Journal of Haematology, vol.
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.