ỨNG DỤNG KỸ THUẬT GAP-PCR TRONG PHÁT HIỆN ĐỘT BIẾN Ở TRẺ NGHI NGỜ MẮC α-THALASSEMIA TẠI CẦN THƠ

Abstract

Background: α-thalassemia is a genetic disease that cause hemolytic anemia disorder which ranges from mild to severe anemia. It caused by the reduced or absent production of α-globin chain. Currently, there are various methods for detecting gene mutations causing α-thalassemia, Gap-PCR is being the most popular due to its low cost and ease of implementation. Objectives: To identify rate of some gene deletion and describe the clinical manifestations and hematological characteristics of patients related to deletions group causing α-thalassemia. Methods: Reported on a series of 19 cases of children suspected of having α-thalassemia, recorded the results of clinical features, hematological characteristics and screened for certain gene deletions including --^SEA, --^FIL, -α^3.7, and -- α^4.2. Results: The gene carrier rate was 68.4% with the --^SEA deletion accounted for 52.6%, the -α^3.7 deletion accounted for 15.8%, the --^THAI and -α^4.2 deletions not yet recorded. Children carryed the --^SEA deletion exhibited more severe clinical manifestations and hematological characteristics compared to the other two groups. In this group, the MCV, MCH and MCHC values were significantly decreased, and This deletion is associated with the presence of Hb Bart's and HbC in the hemoglobin electrophoresis. Conclusion: Using the Gap-PCR method, 2 out of 4 common gene mutations causing α-thalassemia in children were detected.