AB089. Prevalence of the most common β-globin gene mutations in Filipino β-thalassemia patients

Background: Beta (β)-thalassemia is an autosomal recessive disorder characterized by reduced or absent β-globin chain synthesis resulting in decreased hemoglobin in red blood cells (RBC) and consequently, microcytic, hypochromic anemia with varying degrees of severity. The disease is a result of mutations in the human β-globin (HBB) gene. This genetic disorder is considered an emerging global health burden, especially in Southeast Asia, as 50% of world carriers of β-thalassemia, corresponding to 40 million people, are found in this region alone. Thus, prevalence of HBB gene mutations should be identified in our population. This study aimed to determine the prevalence of common β-globin gene mutations in Filipino β-thalassemia patients.

Methods: Fifteen [15] patients underwent DNA extraction and Beta globin strip assay mutational analysis.

Results: The HbE (20%) was the most common allele detected using the strip assay method. Interestingly, a suspected unnamed deletion was detected in 13.33% of patients tested. A high number of normal genotype was also detected which composed majority (60%) of the patients.

Conclusions: The result of the study suggests the limitation of strip assay method in the detection of Filipino HBB gene mutations. Further analysis of the samples tested via the sequencing method is recommended.

Keywords: Beta thalassemia; Filipino; mutations