ABSTRACT
One of the factors affecting the degree of severity in ß-thalassemia disease is the presence of unmatched α-hemoglobin chains. Thus, the expression levels of globin genes in reticulocytes of ß-thalassemia subjects were measured using quantitative RT-PCR, demonstrating that α/ß globin mRNA ratio, as well as levels of γ-globin mRNA and Hb F, increased with progressing degree of ß globin synthesis defect. The levels of γ-globin mRNA and Hb F could not be directly correlated with severity of ß-thalassemia/Hb E disease due to a low statistical power of this analysis. Higher levels of Hb E were present, however, in clinically mild patients, as compared to moderately severe ß-thalassemia/Hb E subjects. This suggests that in ß-thalassemia/Hb E disease, elevation of Hb E level through enhancing correctly spliced ß(E)-globin mRNA offers another approach in ameliorating disease severity. In addition, co-inheritance of α-thalassemia 2 trait in ß-thalassemia/Hb E subjects was associated with milder outcome compared with those with the same ß-thalassemia genotypes, confirming the notion of the beneficial effect of a more balanced α:ß-globin chain ratio.
