ĐẶC ĐIỂM MỘT SỐ CHỈ SỐ HUYẾT HỌC VÀ THÀNH PHẦN HEMOGLOBIN CỦA THAI PHỤ VÀ CHỒNG LÀM XÉT NGHIỆM ĐỘT BIẾN GEN ALPHA THALASSEMIA TẠI BỆNH VIỆN PHỤ SẢN HÀ NỘI

Abstract

Alpha Thalassemia is a common genetic disease in Vietnam. Carriers can be screened by red blood cell indices  and hemoglobin electrophoresis. Objective: to assess cut-off values of RBC indices (MCV<85fl and/or MCH<28pg)  in alpha Thalassemia carriers and to evaluate the red blood cell indices characteristics in alpha thalassemia carriers. Subjects and methods: Cross-sectional descriptive study: 498 high-risk alpha thalassemia carriers were determined the Thalassemia gene mutation at Hanoi Obstetrics and Gynecology Hospital. Results: The positive predictive value (PPV) with cut-off values of RBC indices (MCV<85fl and/or MCH<28pg)  in alpha Thalassemia carriers was 322/498 (64.7%). MCV and MCH values are slightly reduced, near cut-off in α⁺ thalassemia , while the α⁰ thalassemia carriers has drametically reduced MCV, MCH values (MCV67.5± 2.83fl; MCH 21.3±0.99pg). Conclusion: The MCV, MCH values were directly related to the type of α mutation. However, the MCV and MCH values might be in normal range in α+ carriers, especially the -α/αα.