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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 3
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Original Articles

Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State

ORCID Icon, , , , , , , , , & ORCID Icon show all
Pages 174-178 | Received 13 Apr 2020, Accepted 12 May 2020, Published online: 18 Jun 2020
 

Abstract

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 β-thalassemia (β-thal). We report a family with Hb Bronovo, including a homozygous proband, which resulted from maternal uniparental disomy (UPD). Although not detected by routine studies in previous reports, the variant protein is visible by intact mass spectrometry (MS).

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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