Article
Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State.
Hemoglobin - 1 May 2020
Mehta Nikita, Johnston J Martin, Hein Molly, Kipp Benjamin R, Coon Lea, Savedra Michelle E, Hoyer James D, He Rong, Rangan Aruna, Shi Min, Oliveira Jennifer L
Abstract excerpt
Hb Bronovo [α103(G10)His→Leu, HBA2: c.311A>T] is an α-globin variant that interferes with and decreases binding efficiency to α hemoglobin (Hb) stabilizing protein (AHSP), a chaperone molecule. The histidine residue at position 103 is integral to the AHSP hydrogen bond formation where disruption results in an increased quantity of cytotoxic free α-globin chains, thereby creating a similar pathophysiology as...
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