Ineffective Erythropoiesis in β-Thalassaemia: Key Steps and Therapeutic Options by Drugs.

ABSTRACT: β-thalassaemia is a rare genetic condition caused by mutations in the β-globin gene that result in severe iron-loading anaemia, maintained by a detrimental state of ineffective erythropoiesis (IE). The role of multiple mechanisms involved in the pathophysiology of the disease has been recently unravelled. The unbalanced production of α-globin is a major source of oxidative stress and membrane damage in red blood cells (RBC). In addition, IE is tightly linked to iron metabolism dysregulation, and the relevance of new players of this pathway, i.e., hepcidin, erythroferrone, matriptase-2, among others, has emerged. Advances have been made in understanding the balance between proliferation and maturation of erythroid precursors and the role of specific factors in this process, such as members

SUBMITTER: Longo F 

PROVIDER: S-EPMC8268821 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature