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3039 15122 Ensembl ENSG00000206172 ENSMUSG00000069919 UniProt P69905 Q91VB8 RefSeq (mRNA) NM_000558 NM_008218 RefSeq (protein) NP_000508 NP_000508.1 NP_000549.1 NP_001077424 Location (UCSC) Chr 16: 0.18 – 0.18 Mb Chr 11: 32.23 – 32.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Hemoglobin subunit alpha, Hemoglobin, alpha 1, is a hemoglobin protein that in humans is encoded by ...
Table 1: α represents the presence of α-globin gene and- represents the deletion of α-globin gene. [6] The chance of a fetus developing Hemoglobin Bart's hydrops fetalis is dependent upon if one or both parent carries the alpha-thalassemia trait. Due to this disease being incompatible with life, diagnosis for it is done prenatally. [7]
The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb, including seven alpha like globin genes and pseudogenes: 5'- HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1-3'. The HBA2 (α 2) and HBA1 (α 1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but ...
Hemoglobin variants can be discovered through examination, routine laboratory testing, or evaluation of patients with severe anemia. [3] In some countries, all newborns are tested for hemoglobinopathies, thalassemias, and HbS.
For example, the most common hemoglobin sequences in humans, bonobos and chimpanzees are completely identical, with exactly the same alpha and beta globin protein chains. [31] [32] [33] Human and gorilla hemoglobin differ in one amino acid in both alpha and beta chains, and these differences grow larger between less closely related species.
In a healthy individual there are four copies of the gene which encode the alpha-globin protein. Alpha-globin is encoded by the HBA1 (2 copies) and HBA2 (2 copies) genes. The genotype of healthy individuals with four normal copies of α-globin is annotated as αα/αα. In individuals with deletional Hb H disease, there is deletion of three of ...
Alpha Gene Arrangement Functioning α-genes Inheritance Hgb G, % Clinical Presentation uncomplicated G trait, no thalassemia: αG α/α α: 4: Mediterranean: 20-25: No defect alpha thal 2 with trans G trait: α -/αG – or – α/αG – 2: Mediterranean: 35-45: Microcytic alpha thal 2 trait, G trait: α3.7G/α α: 3: African American: 25-35 ...
Two globin chains that have heme groups combine to form hemoglobin. One of the chains is an alpha chain and the other is a non-alpha chain. Non-alpha chain nature in hemoglobin molecules varies due to different variables. Fetuses have a non-alpha chain called gamma and after birth it is then called beta. The beta chain will pair with the alpha ...
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