目的:探讨中国新疆维吾尔自治区的图瓦人珠蛋白生成障碍性贫血(珠贫)和葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症的发生情况。方法:采集333名中国新疆维吾尔自治区的图瓦人的血样,分别应用一管定性法和四氮唑蓝纸片法筛查珠贫及G6PD缺乏症患者;对一管定性法筛查结果阳性的可疑珠贫患者进行α、β珠蛋白基因分析。结果:一管定性法筛查结果阳性有10例,余323名一管定性法筛查结果均为阴性;对一管定性法筛查结果阳性的10例可疑珠贫患者进行α、β珠蛋白基因分析,结果均为阴性。四氮唑蓝纸片法筛查G6PD缺乏症结果均为阴性。结论:新疆维吾尔自治区的图瓦人珠贫和G6PD缺乏症的发生率极低。 Objective: To investigate the incidence of Tuva hypoamanion and glucose-6-phosphate dehydrogenase (G6PD) deficiency in Xinjiang Uygur Autonomous Region in China. Methods: Blood samples were collected from Tuva people in 333 Xinjiang Uygur Autonomous Region of China. The patients were screened for P-deficiency and G6PD deficiency by one-compartment qualitative method and tetrazolium blue paper respectively. The results of one qualitative screening test were positive Suspicious patients with poor beads α, β-globin gene analysis. Results: There were 10 positive cases in one qualitative screening test and 323 negative tests in one qualitative test. The results of one positive β-globin Gene analysis, the results were negative. Tetrazolium blue paper screening G6PD deficiency results were negative. Conclusion: The Tuvalu population and G6PD deficiency in Xinjiang Uygur Autonomous Region are extremely low.