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 thalassemiarelated genes, with an overall detection rate of 3.3% and a significant regional difference in the detection rate. Thalassemiarelated 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.
【摘 要】 目的 探讨云南省 3 个地中海贫血（以下简称地贫）高发地区 23 个少数民族育龄人群地中海贫血常见基因携带状况。 方法 对西双版纳州、德宏州和文山州 2012 — 2014 年婚检、孕前和产前共 21 317 名育龄夫妇进行血细胞分析和血红蛋白电泳分析筛查及地贫基因诊断，用统计学方法分析育龄人群基因检出情况。 结果 地中海贫血基因检出 712 例（3.3 %），经统计学检验 3 地区检出率差异有统计学意义；23 个民族中检出率阿昌族为 8.8 %，傣族为 8.4 %，基诺族为 8.2 %，布朗族为 6.6 %，景颇族为 5.0 %，拉祜族为 4.9 %，壮族为 4.5 %，瑶族为 4.5 %；经 logistic 逐步回归分析，模型检验 χ* = 42.482， P = 0.000，模型有统计学意义，地区和民族是地中海贫血的危险因素，其相对危险度比值地区 OR = 1.295，95 % CI = 1.118～1.498，民族 OR = 1.029，95 % CI = 1.013～1.045。 结论 云南省 3 个地贫高发区 23 个民族育龄人群地中海贫血基因携带率较高，具有地区和民族分布特点，本研究为地中海贫血的防控和干预提供最直接的理论依据。