ĐỘT BIẾN GEN Ở BỆNH NHÂN BETA THALASSEMIA TẠI BỆNH VIỆN SẢN NHI QUẢNG NINH NĂM 2021

Abstract

Objectives: This study aimed to identify some frequent Beta - thalassemia mutations in Quang
Ninh Obstetrics and Pediatrics hospital in 2021.
Methods: The cross-sectional descriptive study included 39 children with Beta - thalassemia at
and under the age of 15 years old.
Results: Arcording to the results, 8 Beta-thalassemia mutations were detected. In total, 86.4%
of the patients had one among 8 common Beta-thalassemia mutations in the North of Vietnam.
There were 4 most frequent Beta-thalassemia mutations: cd17 (AAG-TAG), cd41/42 (-TCTT),
cd26 (GAG-AGG) and cd71/72 (+A), which accouting for 86.4% detected mutations. In addition,
4 compound mutations were observed: cd41 – cd42, cd41/42 – cd17, cd17-cd17 , cd17 – cd26
which were classified into 4 main genotypes: β0 β0, β+ β+, β0 β+, β0 βE.
Conclusion: The study identified the genetic mutations by using PCR method which might not
be able to detect some rare mutations in Beta-thalassemia patients. To avoid this, it is necessary to
combined more molecular analysis techniques.