Objective To detect thalassemia by the third generation sequencing technology,to understand the gene types and composition ratio of thalassemia,so as to provide theoretical basis for the diagnosis of thalasse-mia.Methods Two hundred patients with suspected thalassemia in outpatient department of our hospital were se-lected.Blood routine and hemoglobin electrophoresis was performed for thalassemia screening,and then third-generation sequencing detection and statistical analysis was further performed.Results Among the 200 patients,there were 92 males and 108 females,aged(27.07±5.18)years.A total of 120 cases(60％)were diagnosed as thalassemia by blood routine and hemoglobin electrophoresis,among them 36 cases(30％)were diagnosed as thalassemia gene negative and 84 cases(70％)were diagnosed as thalassemia gene positive by further third-gen-eration sequencing,including 47 cases of α thalassemia(56.0％),34 cases of β thalassemia(40.5％)and 3 cases(3.6％)of α/β compound thalassemia.Eighty cases(40.0％)were negative for thalassemia,during ini-tial screening while 28 cases(35.0％)were proven to be positive for thalassemia by the third-generation sequen-cing.Eighteen genotypes were found in the third-generation sequencing,including eight types that could not be detected by conventional thalassemia gene detection kits and four rare types.Conclusion Blood routine and he-moglobin electrophoresis can screen out people who are highly suspected of thalassemia,but there is a high rate of missed diagnosis.The third-generation sequencing can identify thalassemia genotypes and detect rare gene mu-tations,improve the detection rate of thalassemia,and detect more genotypes than the conventional thalassemia gene kit.
关键词
第三代测序/地中海贫血/诊断/血常规/血红蛋白电泳/地中海贫血基因型
Key words
third generation sequencing/thalassemia/diagnosis/blood routine/hemoglobin electrophoresis/thalassemia genotype
维普
万方数据