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

Mehta, Nikita; Johnston, Jonathan B.; Hein, Molly S.; Kipp, Benjamin R.; Coon, Lea M.; Savedra, Michelle E.; Hoyer, James D.; He, Rong; Rangan, Aruna; Shi, Min; Oliveira, Jennifer L.

doi:10.1080/03630269.2020.1776322

Cited by 1 publication

(2 citation statements)

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“…Finally, it is of interest to note that several α-globin chain variants have been described, which are prone to structural instability associated with structural alterations and impaired interaction with AHSP [ 69 , 70 , 71 ]. This is the case of the recently described α-globin frameshift mutants with stop codon in the last exon at codon 102 (Hb Campania) or at codon 133 (Hb Sciacca) [ 71 ].…”

Section: Alpha-hemoglobin-stabilizing Protein As a Modifier Of Beta-t...mentioning

confidence: 99%

“…Similarly, Hb Bronovo [α103(G10)His → Leu, HBA2: c.311A>T] is an α-globin variant that interferes with the AHSP’s binding efficiency. In fact, the histidine residue at position 103 is integral to the AHSP’s hydrogen bond formation and its disruption leads to an increased quantity of cytotoxic free α-globin chains, thereby creating a similar pathophysiology as β-thalassemia [ 69 ].…”

Section: Alpha-hemoglobin-stabilizing Protein As a Modifier Of Beta-t...mentioning

confidence: 99%

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Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

Traeger-Synodinos,

Vrettou,

Sofocleous

et al. 2024

IJMS

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In this short review, we presented and discussed studies on the expression of globin genes in β-thalassemia, focusing on the impact of α-globin gene expression and α-globin modifiers on the phenotype and clinical severity of β-thalassemia. We first discussed the impact of the excess of free α-globin on the phenotype of β-thalassemia. We then reviewed studies focusing on the expression of α-globin-stabilizing protein (AHSP), as a potential strategy of counteracting the effects of the excess of free α-globin on erythroid cells. Alternative processes controlling α-globin excess were also considered, including the activation of autophagy by β-thalassemia erythroid cells. Altogether, the studies reviewed herein are expected to have a potential impact on the management of patients with β-thalassemia and other hemoglobinopathies for which reduction in α-globin excess is clinically beneficial.

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Section: Alpha-hemoglobin-stabilizing Protein As a Modifier Of Beta-t...mentioning

confidence: 99%

Section: Alpha-hemoglobin-stabilizing Protein As a Modifier Of Beta-t...mentioning

confidence: 99%

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

Traeger-Synodinos,

Vrettou,

Sofocleous

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

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

Cited by 1 publication

References 13 publications

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

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