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The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported.
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Protein Aliases: alpha globin; alpha one globin; alpha-2 globin; alpha-2 globin chain; Alpha-globin; delta globin; hemoglobin alpha 1 globin chain; Hemoglobin alpha chain; Hemoglobin subunit alpha; hemoglobin, alpha 1; hemoglobin, alpha 2; mutant hemoglobin alpha 2 globin chain
Gene Aliases: HBA-T2; HBA-T3; HBA1; HBA2; HBH
UniProt ID: (Human) P69905
Entrez Gene ID: (Human) 3039, (Human) 3040
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