The Effect of Single Nucleotide Polymorphisms on Clinical Phenotypes of Sabahan Transfusion-Dependent β-Thalassemia Patients with Homozygous Filipino β-Deletion.

Sabah has the highest prevalence of β-thalassemia in Malaysia, with the Filipino β-deletion as the predominant mutation. Patients with the homozygous Filipino β-deletion exhibit phenotypic heterogeneity due to various genetic modifiers, yet the effects of these modifiers on the clinical phenotype remain poorly understood. This study investigated the effects of the coinheritance of α-thalassemia, I-γ rs7482144, rs766432, and 5'HS4 rs16912979 polymorphisms on the clinical phenotype of homozygous Filipino β-deletion patients in Sabah.

Genotype-Phenotype Study of β-Thalassemia Patients in Sabah.

β-thalassemia is a serious public health problem in Sabah due to its high prevalence. This study aimed to investigate the effects of different types of β-globin gene mutations, coinheritance with α-globin gene mutations, I-γ, and rs368698783 polymorphisms on the β-thalassemia phenotypes in Sabahan patients. A total of 111 patients were included in this study.