Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of ß-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
Int J Mol Sci
; 25(6)2024 Mar 17.
Article
em En
| MEDLINE
| ID: mdl-38542374
ABSTRACT
In this short review, we presented and discussed studies on the expression of globin genes in ß-thalassemia, focusing on the impact of α-globin gene expression and α-globin modifiers on the phenotype and clinical severity of ß-thalassemia. We first discussed the impact of the excess of free α-globin on the phenotype of ß-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 ß-thalassemia erythroid cells. Altogether, the studies reviewed herein are expected to have a potential impact on the management of patients with ß-thalassemia and other hemoglobinopathies for which reduction in α-globin excess is clinically beneficial.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Hemoglobinopatias
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article