Skip to main content
. 2022 Jun 4;11(6):862. doi: 10.3390/biology11060862

Figure 2.

Figure 2

Molecular mechanisms underlying β-thalassemia. (a) Role of fetal globin repressors including BCL11A, SOX6 and KLF1 in the expression of γ and β-globin gene: In the fetus, chromatin factor Friend of Prmt1 (FOP) expression is low. Hence, fetal globin repressors including BCL11A, SOX6 and KLF1 did not have any function, and transcription factors such as NF-E4 bind the coding region of the gene and fetal globin (HbF) is synthesized. In adults, expression of FOP is high and fetal globin repressors are activated, bind to the coding site of the gene and β-globin is produced in erythroid progenitors. (b) In β-thalassemia, some mutations cause β-globin gene to downregulate, which are known as cis and trans acting elements, leading to downregulation of β gene expression. Mutations in GATA-1, TFIIH, and KLF1 are known as trans acting regulatory elements, while mutations in alleles of β-globin locus are known as cis acting elements.