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

Authors:
Open Access
Publisher website
Google Scholar
Abstract
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.
Funding Information
  • Wellcome Trust (208872/Z/17/Z, AIFA-2016-02364887, 306201-FP7-HEALTH-2012-INNOVATION-1)
  • Agenzia Italiana del Farmaco, Ministero della Salute (208872/Z/17/Z, AIFA-2016-02364887, 306201-FP7-HEALTH-2012-INNOVATION-1)
  • European Commission (208872/Z/17/Z, AIFA-2016-02364887, 306201-FP7-HEALTH-2012-INNOVATION-1)
  • University Research Institute for the Study of Genetic & Malignant Disorders in Childhood, National and Kapodistrian University of Athens, Greece (208872/Z/17/Z, AIFA-2016-02364887, 306201-FP7-HEALTH-2012-INNOVATION-1)

This publication has 113 references indexed in Scilit: