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

摘要： 背景　地中海贫血（TM）是一种常染色体遗传性疾病，轻型TM患者可能仅出现贫血的相应症状，但重型TM需要终身定期输血或骨髓移植，给患者的生活带来痛苦和负担。患有TM的夫妻可能会将TM遗传给下一代，因此通过基因诊断对TM进行系统分析，减少TM患儿的出生率，提高生活质量，减轻家庭负担。目的　探讨云南省大理白族自治州TM的流行病学及表型特征。方法　选取2014年8月—2018年5月在大理大学第一附属医院、大理白族自治州人民医院做TM检查的6 120例受检者为研究对象。采用乙二胺四乙酸（EDTA-K2）抗凝管收集静脉血5 ml，通过一代测序、实时荧光定量聚合酶链反应（PCR），PCR-反向点杂交法及跨越断裂点聚合酶链反应（Gap-PCR）法检测23种TM基因变异类型（α-TM：缺失型3种，突变型3种；β-TM突变型17种）。结果　6 120例样本中检测出TM 1 220例（19.93%），其中α-TM 560例（45.90%）：α缺失型520例，α突变型40例；β-TM 660例（54.10%）。α-TM缺失型以-α3.7型发生率〔69.23%（360/520）〕最高，突变型以αCSα发生率〔75.00%（30/40）〕最高，β突变型以Be（GAG>AAG）发生率〔53.03%（350/660）〕最高。结论　云南省大理白族自治州人群β-TM的发生率高于α-TM，而α缺失型的α-TM发生率较α突变型高，主要以-α3.7缺失型为主，α-TM突变型中未出现αQSα型突变。

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