KHẢO SÁT TỶ LỆ BỆNH LÝ HUYẾT SẮC TỐ TRÊN NGƯỜI TRƯỞNG THÀNH CÓ THAY ĐỔI CHỈ SỐ MÁU NGOẠI VI

Abstract

Background: Hemoglobin abnormalities especially thalassemia are the most frequent genetic diseases on the world. The detection of thalassemia carriers or abnormal hemoglobin in adults with changes in erythrocyte index, contributes to reducing the burden caused by this disease. Objectives: To determine the ratio of hemoglobin diseases and thalassemia gene carriers in adults with altered expression of peripheral blood index. Methods: In a descriptive cross-sectional study, 200 patients with abnormalities in peripheral red blood indices were subjected to hemoglobin electrophoresis to detect hemoglobin diseases. Thirty patients in the group of undiagnosed disease by hemoglobin electrophoresis technique were sequenced to identify thalassemia gene mutations. Results: The ratio of hemoglobin diseases and thalassemia gene carrier detected by hemoglobin electrophoresis technique was 39.5% (α thalassemia: 1.0%; β thalassemia: 19.0%, HbE: 4, 5%; β thalassemia + HbE: 14.5%; HbC: 0.5%. Gene sequencing results showed that the ratio of carrying mutations in α, β globin genes increased to 93.3% (SEA: 86.7%, SEA C.* 247>C β gene: 3.3%; SEA C-59C>T β gene: 3.3%). Conclusion: The ratio of hemoglobin abnormalities and thalassemia gene carrier is relatively high in people with changes in peripheral red blood cell index. By utilizing gene sequencing we detected a high rate of cases carrying mutations in the thalassemia gene comparing to the hemoglobin electrophoresis technique.