KHẢO SÁT TẦN SUẤT ĐỘT BIẾN GEN BETA GLOBIN TẠI BỆNH VIỆN NHI THANH HÓA NĂM 2022-2023

Abstract

Background: Thanh Hoa is one of the provinces with the highest prevalence of beta-thalassemia in Vietnam. The disease poses a significant burden on families and society. Multiplex PCR is widely used to detect beta-thalassemia mutations. Objectives: To determine the frequency of common beta-thalassemia mutations and evaluate relevant laboratory parameters. Subjects and Methods: A total of 344 patients with microcytic hypochromic anemia suspected of beta-thalassemia underwent β-globin gene testing at Thanh Hoa Children's Hospital. Multiplex PCR was used to detect common β-globin gene mutations. Results: Among 214 tested patients, 167 cases (78%) carried β-globin gene mutations. The most common mutations were CD26 (HbE) (73.9%), CD17 (11.7%), CD41/42 (9.6%), -28 (2.7%), CD95 (1.6%), and CD71/72 (0.5%). Conclusion: Multiplex PCR is an accurate and effective method for detecting β-globin gene mutations, supporting beta-thalassemia screening and diagnosis.