Factors affecting health-related quality of life and its association with the Xmn1-Gγ polymorphism among adolescents with transfusion-dependent beta thalassemia and HbE/Beta thalassemia in East Coast Malaysia

Abstract Introduction Xmn1 -Gγ polymorphism has been significantly associated with disease severity in HbE/β-thalassemia patients. The aim of this study is to determine the factors affecting health related quality of life (HRQoL) and its association with Xmn1 -Gγ polymorphism among transfusion-dependent β-thalassemia and HbE/β-thalassemia adolescents. Materials and Methods A cross-sectional study was conducted from day care thalassemia centers and thalassemia clinics of tertiary centers in East Coast Malaysia. The Malay version of the Pediatric Quality of Life Inventory™ 4.0 Generic Core Scale was used to evaluate quality of life. Associated factors were analyzed using multivariate regression analysis. Results The lowest QOL mean score was school functioning at 59.69 (16.23). Xmn1-Gγ polymorphism was significantly associated with physical functioning ( p =0.018) and emotional functioning ( p =0.013). Frequency of blood transfusion per year was found to be significantly associated with social functioning ( p =0.005) while gender and age onset of anemia were significantly associated with school functioning ( p=0.009 and p =0.009). Xmn1 heterozygous CT was significantly associated with a higher physical functioning score by 0.192 and a higher emotional functioning score by 0.202 compared to Xmn1 homozygous wild-type CC. It is reportedly significantly higher concentration of HbF in patients with a “T” nucleotide change at the -158 locus at the Gγ-globin promoter compared to those without the polymorphism. Conclusion The precise factors that influence HRQoL empowers a better understanding to the effectiveness of thalassemia disease management in the country.