ABSTRACT
Objective To discover the mutations of rare thalassemia genes by sequencing of α and β-globin genes,to understand the frequency of rare mutations and to enrich thalassemia gene mutation spectrum in Chinese population.Methods For the cases of phenotype and genotype inconsistent,the 1st generation of sequencing was performed for α or β-globin gene coding region sequence analysis.Results A total of 102 patients with rare thalassemia gene mutations were found by sequencing,including 79 cases of β-thalassemia with 35 kinds of mutant types,and 23 cases of α-thalassemia with 11 kinds of mutant types.Conclusion The thalassemia gene sequencing could reveal rare mutations in genes,identify the genotype of patients,provide important support for prenatal diagnosis of rare thalassemia families,and reduce the missing rate and birth rate of children with thalassemia.