Gene diagnosis of α-thalassemia in Guizhou

Objective:To explore the clinical application value of gene diagnosis of α-thalassemia. Methods:Gene analysis was conducted among 95 suspicious cases of α-thalassemia by single-tube multiplex PCR and reverse dot-blot hybridization technique. Results:Among 95 suspicious cases of α-thalassemia,37 cases were found with α-thalassemia,the detection rate was 38.9%.6 kinds of mutation genotypes were detected,the proportions of——SEA/αα and-α3.7/αα were 56.8% and 27.0%,respectively.The four mutant alleles detected could be listed as follows according to the frequency from high to low:——SEA,-α3.7,-α4.2 and-αCS,the proportions of——SEA and-α3.7 were 60.0% and 30.0%,respectively. Conclusion:Gene diagnosis is a accurate and reliable method to diagnose α-thalassemia,the main gene mutant type of α-thalassemia in Guizhou is deletion type.