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

• Published in: Pediatric hematology oncology journal 2020-06, Vol.5 (2), p.30-36
• Main Authors: Yusof, Wardah, Zulkifli, Maryam Mohd, Azman, Nurul Fatihah, Ab Hamid, Siti Azrin, Othman, Azizah, Draman, Nani, Zilfalil, Bin Alwi, Hassan, Rosline, Abdullah, Wan Zaidah
• Format: Article
• Language: English
• Subjects: Adolescent; Quality of life; Thalassemia; Xmn1-Gγ polymorphism
• ISSN: 2468-1245; 2468-1245
• DOI: 10.1016/j.phoj.2020.04.001

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. 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. 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. The precise factors that influence HRQoL empowers a better understanding to the effectiveness of thalassemia disease management in the country.