β-Thalassemia in Vietnam: Epidemiology, Molecular Characteristics, Diagnosis, Treatment, and Prevention Strategies

β-thalassemia is one of the most prevalent inherited hemoglobin disorders worldwide and represents a major public health challenge in Southeast Asia, particularly in Vietnam. The disorder is caused by pathogenic variants in the β-globin (HBB) gene, resulting in reduced or absent β-globin synthesis, ineffective erythropoiesis, chronic hemolytic anemia, and progressive multi-organ complications. Vietnam exhibits a high burden of thalassemia and related hemoglobinopathies, with approximately 13.8% of the population carrying a hemoglobinopathy-associated variant and substantial heterogeneity in distribution across ethnic groups and geographic regions. This review provides a comprehensive overview of the epidemiology, molecular characteristics, diagnostic strategies, treatment approaches, and prevention programs for β-thalassemia in Vietnam. Current evidence indicates that a limited number of recurrent HBB variants account for the majority of β-thalassemia alleles in the Vietnamese population, including codon 17 (A>T) (HBB: c.52A>T), codons 41/42 deletion (-TTCT) (HBB: c.126_129delTTCT), codons 71/72 (+A) (HBB: c.216_217insA), codons 95 (+A) (HBB: c.287_288insA), IVS-I-1 (G>T) (HBB: c.92+1G>T), IVS-I-5 (G>C) (HBB: c.92+5G>C), IVS-II-654 (G>T) (HBB: c.316+197C>T), -28 (A>G) (HBB: c.-78A>G), and -88 (C>T) (HBB: c.-138C>T). Diagnostic strategies generally follow a stepwise approach integrating hematological screening and hemoglobin analysis with confirmatory molecular testing. Advances in molecular diagnostics, particularly targeted polymerase chain reaction (PCR)-based assays and next-generation sequencing (NGS), have significantly improved detection of both carriers and affected individuals. Despite these advances, β-thalassemia continues to impose a considerable clinical, economic, and societal burden because many patients require lifelong blood transfusions, iron chelation therapy, and multidisciplinary management of disease-related complications. Major challenges include limited access to screening, prenatal diagnosis, and genetic counseling services, particularly in rural and ethnic minority populations, as well as the financial and technical barriers associated with advanced molecular diagnostics and emerging therapies. Strengthening nationwide screening programs, expanding access to prenatal and preconception genetic services, improving public awareness, and enhancing healthcare infrastructure are essential for reducing disease incidence and improving patient outcomes. In parallel, the integration of advanced molecular diagnostics and emerging gene-based therapies will be critical for advancing long-term disease control. This review highlights current knowledge gaps and proposes strategic priorities to support evidence-based policy development and comprehensive β-thalassemia prevention and management in Vietnam.