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Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin , makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). [5] It is 147 amino acids long and has a molecular weight of 15,867 Da.
Beta thalassemias (β thalassemias) are a group of inherited blood disorders.They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals.
Hemoglobin A2 (HbA 2) is a normal variant of hemoglobin A that consists of two alpha and two delta chains (α 2 δ 2) and is found at low levels in normal human blood.Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene.
Beta-thalassemia (β-thalassemia) is an inherited mutation of the β-globulin gene which causes the reduced synthesis of the β-globin chain of hemoglobin. [14] The majority of the mutations are point mutations that affect translation, transcriptional control, and splicing of the hemoglobin β gene and gene product. [15]
Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure. However, the mutation is amenable to genome editing at high efficiency in preclinical studies. [ 6 ] It affects more than a million people in the world. [ 7 ]
Hemoglobin E/ beta thalassemia: common in Cambodia, Thailand, and parts of India, it is clinically similar to β thalassemia major or β thalassemia intermedia. [34] Hemoglobin S/ beta thalassemia: common in African and Mediterranean populations, it is clinically similar to sickle-cell anemia. [35] Delta-beta thalassemia is a rare form of ...
Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are faulty. [ 2 ]
15122 Ensembl ENSG00000188536 ENSMUSG00000069919 UniProt P69905 Q91VB8 RefSeq (mRNA) NM_000517 NM_008218 RefSeq (protein) NP_000508 NP_000508.1 NP_000549.1 NP_001077424 Location (UCSC) Chr 16: 0.17 – 0.17 Mb Chr 11: 32.23 – 32.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of ...
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