Khảo sát tình hình sàng lọc bệnh lý huyết sắc tố (HST) tại hệ thống y tế MEDLATEC cũng như đặc điểm một số xét nghiệm khác trên người bệnh và người mang gen bệnh lý HST. Đối tượng: Nghiên cứu hồi cứu mô tả cắt ngang thực hiện trên 18708 trường hợp nghi ngờ mắc bệnh hoặc mang gen thalassemia được xét nghiệm (XN) điện di huyết sắc tố (ĐDHST) trên hệ thống điện di mao quản Sebia Capillarys 3 Tera và/hoặc XN đột biến thalassemia tại Trung tâm xét nghiệm hệ thống y tế Medlatec từ 01/01/2022 đến 31/12/2023. Kết quả: Trên 17785 trường hợp XN ĐDHST, 33,9% có kết quả bất thường (13,3% nghi ngờ mang gen/ mắc β thalassemia, 9,97% HbE, 3,99% α thalassemia, 5,74% nghi ngờ mang gen α thalassemia, 0,9% có HbCs đơn độc). 1183 trường hợp được XN đột biến thalassemia, 45,73% phát hiện đột biến, đột biến gen α globin được phát hiện nhiều nhất (31,11%), tiếp theo là đột biến HbE (8,03%), các đột biến gen β globin khác (6,08% trường hợp),The objective of this study was to assess the current status of hemoglobinopathy screening within the MEDLATEC healthcare system, as well as the characteristics of other related tests in patients and carriers. Method: The study was conducted as a cross-sectional descriptive analysis on 18.708 individuals suspected of having hemoglobin disorders or carrying thalassemia-related gene mutations. These individuals were tested with either hemoglobin electrophoresis (capillarys electrophoresis method on Sebia Capillarys 3 Tera instrument) and/or thalassemia mutation at Medlatec center laboratory between January 1, 2022 and December 31, 2023. Results: Hemoglobin electrophoresis: among 17.785 cases tested using hemoglobin electrophoresis, 33.9% showed abnormal results (13.3% suspected β-thalassemia carriers or patients, 9.97% HbE, 3.99% α-thalassemia, 5.74% suspected carriers of α-thalassemia, 0.9% HbCs). Thalassemia mutation testing: 1.183 cases tested for thalassemia mutations, 45.73% were found to have mutation, α-globin mutation is the most common (found in 31.11% of cases), followed by HbE mutations (8.03%), and other β-globin gene mutations (6.08%), additionally, 0.42% of cases had combined α and β globin mutations. Concordance between hemoglobin electrophoresis and genetic testing: in 260 cases where both hemoglobin electrophoresis and genetic testing were performed simultaneously, results showed high concordance, notably the following groups had 100% concordance: HbE carriers, α-thalassemia (HbH + HbCs), β- thalassemia, HbCs carriers, in group with normal hemoglobin electrophoresis: 44.44% of case were found to have α-globin mutation, in 5 cases with isolated low HbA2: only 1 case is α thalassemia carrier (4 others were found with no mutation and low serum iron, ferritin). Comprehensive Blood Cell Analysis and Iron Profile: in 174 cases tested for CBC, iron profile, and thalassemia mutations, most thalassemia carriers exhibited decreased MCV (<
80 fL), however, a proportion still had MCV values between 80 fL and 85 fL, all individuals with gene mutations had low MCH (<
28 pg), iron deficiency was predominantly observed in the group without detected mutations and α-Trait . Conclusion: Abnormal hemoglobin electrophoresis pattern can be use to predict the genotype of thalassemia carriers. However, in cases with normal hematological results, the loss of 1 or 2 α-globin genes can not be excluded. Red blood cell indices such as Hb, MCV, MCH, and RDW are useful indicators in the screening of Thalassemia.