Đặc điểm dịch tễ gen bệnh Thalassemia ở một số đồng bào dân tộc thiểu số ít người trên địa bàn tỉnh Lào Cai năm 2018

Abstract

Objective: to estimate the prevalence of various form of Thalassemia gene carriers and the rate of thalassemia gene mutations among some ethnic minorities of Lao Cai Province in 2018. Methods: A cross-sectional study was conducted to obtain information and blood specimens from 1433 subjects from ethnic minority groups include Phu La, Nung, Bo Y, Giay and Ha Nhi in Lao Cai province from April 2017 to September 2018. Results: The prevalence of people carried the thalassemia gene was relatively high, about 24.5%. the rate of carrying α thalassemia gene was 15.2%; the rate of carrying β thalassemia gene was 11.4%; the rate of carrying both α and β thalassemia genes was 2.1%. The Giay and Nung ethnic groups have the highest rates of thalassemia carrier. There are 10 types of gene mutations detected, in which the most common α thalassemia gene mutation was --α3.7/αα; --α4.2/αα (6.8%) and the most common β thalassemia gene mutation was Cd17/17 (7%). Conclusion: The rate of common thalassemia gene carrier for 5 ethnic groups is high, of which Giay and Nung have the highest rate. Therefore, it is necessary to promote screening and detection of gene carriers while improving the quality, diagnosis and treatment of thalassemia in the area. Keywords: Thalasemia gene, Thalassemia, ethnic minorities