Detection of thalassemia genes among 23 ethnic reproductive populations in Yunnan province, China

  Objective  To investigate the prevalence of common genes associated with thalassemia among 23 ethnic populations at childbearing age in 3 regions with high incidence of thalassemia in Yunnan province.

  Methods  Using blood cell count and hemoglobin electrophoresis, we conducted thalassemia screenings among 21 317 ethnic minority examinees of premarital, preconception, and prenatal check-up in Xishuangbanna, Dehong and Wenshan prefectures of Yunnan province from 2012 through 2014. Detections of common genes associated with thalassemia were also performed for all the examinees and the detection results were analyzed statistically.

  Results  Among the examinees, 712 were positive for thalassemia-related genes, with an overall detection rate of 3.3% and a significant regional difference in the detection rate. Thalassemia-related gene positive examinees were detected among 18 of 23 ethnic populations and higher detection rates were observed in ethnic minority populations of Achang (8.8%), Dai (8.4%), Jinuo (8.2%), Brown (6.6%), Jingpo (5%), Lahu (4.9%), Zhuang (4.5%), and Yao (4.5%). A step-wised logistic regression model was constructed successfully (χ² = 42.482, P < 0.000), indicating that significant risk factors for thalassemia were region (odds ratio OR = 1.295, 95% confidence interval CI: 1.118 – 1.498) and ethnicity (OR = 1.029, 95% CI: 1.013 – 1.045).

  Conclusion  The carrying rate of common genes associated with thalassemia is relatively high among ethnic populations at childbearing age in 3 regions with high incidence of thalassemia in Yunnan province and differs by region and ethnicity. The results provide direct evidences for the prevention and intervention on thalassemia in the populations.