Relationship between AHSP gene expression, β/α globin mRNA ratio, and clinical severity of the β-thalassemia patients

Alpha hemoglobin stabilizing protein (AHSP) is a chaperone-like molecule specialized for erythroid series which binds to free α-globin chain. According to this characteristic, AHSP can be considered an important factor which reduces beta thalassemia symptoms.

Reticulocytes RNA extraction and a subsequent cDNA synthesis were performed, followed by Relative qRT-PCR for AHSP, alpha, and beta globin chain genes. The beta actin gene was used as an endogenous reference as well. The relationship between AHSP gene expression, disease severity, and the β/α globin mRNA ratio was studied among different homozygote β-thalassemia patients (mild, moderate and severe) and compared with minor thalassemia and the normal population.

Analysis of the β-globin/α-globin mRNA ratio has shown that disease severity enhanced with a decrease in this proportion. Evaluation of the correlation between AHSP gene expression and the average of the β-globin/α-globin expression ratio indicated a significant but indirect relationship in considered groups. Our results demonstrated that the AHSP gene expression increases in accordance with augmentation of clinical symptoms.

Although one of the main reasons for reduced clinical severity in homozygote β-thalassemia can be the high level of AHSP gene expression as a chaperon molecule, our findings indicated that AHSP gene expression decreased in a mild category as compared to that in severe and moderate groups.