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.
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The other suggested mechanism is that hemorphin, a protein that suppresses inflammation and neutrophil migration, is primarily released from the beta globin chain of hemoglobin via proteolytic cleavage in vivo.
Thalassemia is congenital hemolytic disorder caused by a partial or complete deficiency of alpha or beta globin chain synthesis.
[1] Sickle cell disease is caused by point mutation in the [beta]-Globin gene on chromosome 11, causing replacement of glutamic acid by valine at the sixth position of beta globin chain of Hb.
Hemoglobin Jamaica Plain (Hb JP, [[beta].sup.Glu6Va1, Leu68Phe] in cis) is a sickling-hemoglobin with markedly reduced oxygen affinity (31); molecular modeling of the compound mutant protein [[beta].sup.Glu6Val, Leu68Phe] suggested a destabilization of the oxy conformation in Hb JP, due probably to unfavorable steric interactions of the phenylalanine residue within the folded beta globin chain (31).
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 U7.623.
Amino acid sequence of the alpha and beta globin chains of the Hiroo sea snake (Laticauda laticaudata).
When a patient inherits both of these conditions, the MCV and MCH often normalize because alpha and beta globin chains are present in relatively balanced amounts in developing red blood cells.
Beta-thalassemia is caused by the reduced ([beta.sup.+]) or absent ([beta.sup.0]) synthesis of the beta globin chains of the hemoglobin (Hb) tetramer, which is made up of two alpha globin and two beta globin chains ([alpha.sub.2][beta.sub.2]) [1, 2].
Thalassemias are due to the imbalance in the concentrations of alpha and beta globins, affected during their synthesis, which diminish or suppress the production of alpha or beta globin chains that make up the hemoglobin tetramer molecule (NAOUM; BONINI-DOMINGUES, 2007).
In Thalassemia major the production of beta globin chains is severely impaired because both beta globin genes are mutated which results in a severe or total suppression of beta chain synthesis.
Introduction: Beta Thalassemia is an inherited haemoglobin disorder characterized by reduced synthesis of beta globin chains.1 The most severe forms of AY-thalassemia major present within the first year of life with severe anaemia and failure to thrive.2 The haemoglobinopathies are major genetic problems in Pakistan.