ĐÁNH GIÁ GIÁ TRỊ CỦA KỸ THUẬT ĐIỆN DI HUYẾT SẮC TỐ TRONG SÀNG LỌC NGƯỜI MANG GEN THALASSEMIA

Abstract

Objectives: To describe the prevalence of α and β-Thalassemia by the capillary hemoglobin electrophoresis technique and compare the results of Thalassemia identification between the capillary hemoglobin electrophoresis techniques and the Globin Strip Assay reverse molecular hybrid assay. Methods: A retrospective, cross-sectional descriptive study on 383 pregnant women, who came for Thalassemia screening at the National Hospital of Obstetrics and Gynecology from January 2012 to February 2023. Gather all test results: Peripheral blood cytology, iron, ferritin, hemoglobin electrophoresis, and reverse molecular hybrid test (Globin Strip Assay). Results: Using capillary hemoglobin electrophoresis technique to determine Thalassemia types, the following results were obtained: α-Thalassemia (2.3%), β-Thalassemia (14.4%), α and β-Thalassemia (0), Thalassemia in combination with HbE (3.4%), and HbE (6.8%). Value of HST electrophoresis technique in Thalassemia screening: Sensitivity = 36.2%, specificity = 71.4%, positive predictive value = 92.6%, negative predictive value = 10.1%, and accuracy = 39.4%. Conclusion: Capillary hemoglobin electrophoresis technique demonstrates a high ability to identify various β-Thalassemia types; however, it may miss several cases of α-Thalassemia. The Globin Strip Assay reverse molecular hybrid assay holds significant diagnostic value, particularly in cases of α-Thalassemia that may be missed by Capillary hemoglobin electrophoresis technique.