Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β-Thalassemia.

ABSTRACT: Thalassemia, an inherited quantitative globin disorder, consists of two types, α- and β-thalassemia. β-thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe. Considerable research has focused on investigating its underlying etiology. These studies found that DNA hypomethylation in the β-globin gene cluster is significantly related to fetal hemoglobin (HbF) elevation. Histone modification reactivates γ-globin gene expression in adults and increases β-globin expression. Down-regulation of γ-globin suppressor genes, i.e., BCL11A, KLF1, HBG-XMN1, HBS1L-MYB, and SOX6, elevates the HbF level. β-thalassemia severity is predictable through FLT1, ARG2, NOS2A, and MAP3K5 gene expression. NOS2A and MAP3K5 may predict the β-thalassemia patient's response to hydroxyurea,

SUBMITTER: Zakaria NA 

PROVIDER: S-EPMC8158146 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature