The stable reference genes recommended by RefFinder were validated with SLC4A1 and flow cytometric eosin-5'-maleimide binding assay values in HS patients and HBG2 and high performance liquid chromatography-derived percentage of hemoglobin F in βTI.
The combination of these alleles with severe beta-thalassemia genotypes leads to the phenotype of beta-thalassemia intermedia even though there are no any attenuating factors such as XmnI Gg polymorphism at position -158 of the HBG2 promotor or the alpha-globin defects.
Taken together, these results indicate that only the heterozygous Hbb(th-3) model of beta-thalassaemia intermedia can be reliably used for the pre-clinical assessment of gamma-globin gene therapy vectors, as well as other means of gamma-globin gene induction.
The degree of phenotypic correction of murine beta -thalassemia intermedia following lentiviral-mediated transfer of a human gamma-globin gene is influenced by chromosomal position effects and vector copy number.