Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity
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DOI: 10.1080/03630269.2017.1302467
Abstract: Abstract We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total… read more here.
Keywords: oxygen; hba1 151; oxygen affinity; 151 152insggagcc ... See more keywords