Prevalence and Molecular Characterization of Beta-Thalassemia Gene Mutations in At-Risk Couples: A Retrospective Study in Health Region 10, 2014-2021

Beta-Thalassemia Gene Mutations in At-Risk Couples

Abstract

        This study aimed to collect the results of beta-thalassemia mutation testing conducted at the medical laboratory of Ubon Ratchathani University Hospital, which serves as the sole public service center in Health Region 10. The study spanned from 2014 to 2021. Its objective was to assess the prevalence and types of beta-thalassemia gene mutations using the molecular diagnostic tests provided in the laboratory for beta-thalassemia. Out of the 1,248 sample pairs obtained from at-risk couples, 483 pairs exhibited positive beta-thalassemia gene mutations. The most frequently observed mutation was nucleotide-28 (A-G), occurring at a rate of 30.7%. Additional beta-thalassemia gene mutations were also identified, including CD41/42 (-TTCT) at 28.5% and CD17 (A-T) at 14.6%. Within the cohort of at-risk couples, 254 pairs (52.6%) were identified as being at high risk of severe beta-thalassemia disease. Errors in the unnecessary transport of blood samples occurred in 45 pairs, most of which (93.3%, or 42 pairs) were found to have falsely elevated Hb A2 levels. However, it is important to note that this study is retrospective and limited to just one out of several referral centers in the region. Collecting data from multiple centers would offer more precise evidence and greatly contribute to the development of prevention and control programs for these prevalent genetic disorders in the region.