关键词: 地中海贫血, 大理地区, 基因诊断, 妊娠, 实时聚合酶链反应

Abstract: Background　Thalaseemia is an autosomal inherited disease, and patients with mild thalassemia may only have the corresponding symptoms of anemia, but severe thalassemia which requires regular blood transfusions or bone marrow transplants brings pain and burden to patients' lives. Couples with thalassemia may pass it to their newborn.Therefore, a systematic analysis of thalassemia through genetic diagnosis can reduce the birth rate of children with thalassemia, improve the quality of life and reduce family burden. Objective　To explore epidemiology and phenotypic characteristics of thalaseemia in Dali, Yunnan.Methods　A total of 6 120 cases who undergone thalassemia genotype genetic diagnosis from the First Affiliated Hospital of Dali University and Dali Bai Autonomous Prefecture People's Hospital were selected between August 2014 to May 2018. 5 ml of venous blood was collected with EDTA - K2 anticoagulant tube and 23 thalassemia gene mutation types ( alpha-thalassemia: 3 deletion forms, 3 mutant forms; beta-thalassemia: 17 mutant forms) were detected through the technique combined with the first generation of sequencing, real-time fluorescent quantitative polymerase chain reaction ( PCR ), PCR-reverse dot hybridization method and Gap-PCR method. Results　Of the 6 120 cases, 1 220 were diagnosed as thalassemia（19.93%）, 560（45.90%） of who had α-thalassemia, with 520 cases of deletion form and 40 cases of mutant form, and 660 （54.10%）of who had β thalassemia -α3.7 mutation 〔69.23%（360/520）〕had the highest frequency of α thalassemia deletion form, the highest in mutant form was αCSα〔75.00%（30/40）〕 and Be（GAG>AAG）〔53.03%（350/660）〕 mutation had the highest frequency of β thalassemia mutant form．Conclusion　The frequency of β thalassemia is higher than that of α thalassemia in Dali, Yunnan.The frequency of deletion form is higher than that of mutant form in α thalassemia, with -α3.7 deletion form in majority. And αQSα mutation form is not detected in α thalassemia mutation.

Key words: Thalassemia, Dali region, Genetic diagnosis, Pregnancy , Real-time polymerase chain reaction