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Abstract Objective: To study the thalassaemia gene carrying rate, common mutation types, and its frequency in middle school students of Bouyei Nationality from Duyun of Qiannan Prefecture in Guizhou Province. Methods: 1700 middle school students who all up to three generations Bouyei people were screened for thalassaemia hematology. Testing haematological phenotype by MINDRAY DC-5390 blood cell analyzer was used. Mediterranean anaemia gene was detected in 436 people, whose average red blood cells in venous blood volume were ≤ 82 fl and average content of erythrocyte were ≤ 27 pg. Results: In the 1700 students, 184 of them were found the alpha thalassemia gene deletion, rate of 10.8%, which including alpha thalassemia I gene (SEA) （42.86%）, alpha thalassemia II gene（3.7） （32.2%）, alpha thalassemia II gene（4.2）（13.1%）, alpha thalassemia and alpha thalassemia II gene（1.63%）, and alpha thalassemia double heterozygote gene(3.7+4.2)(1.07%). 119 of them were found the beta thalassemia mutation gene, carrying rate of 7% and four kinds of mutation gene were CD17 (52.94%), D41-42 (42.86%), BE (2.52%), -28 (1.68%). Conclusion: The alpha thalassemia gene deletion rate and the beta thalassaemia carrying rate in Bouyei middle school students were 10.8% and 7%. It is important for controlling the birth of children with thalassemia major and improving the quality of the newborn by population screening, genetic counseling, the old concept of marriage and childbirth change, and rational marriage guiding.
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