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中文摘要：
目的 分析广西壮族自治区（简称广西）常见、罕见类型β-地中海贫血（简称地贫）基因突变的发生情况,为减少漏诊、误诊提供临床帮助.方法 2010年1月至2013年12月,选取在广西妇幼保健院就诊及转诊的可疑地贫患者42 770例,其中男性20 740例,女性22 030例.年龄范围在1个月～ 54岁.所有患者进行血常规,血红蛋白电泳,血清铁、铁蛋白筛查;筛查阳性患者通过反向点杂交（RDB）进行基因诊断;筛查阳性但基因诊断常见基因未发现突变位点的患者进行β珠蛋白基因扩增并测序.结果 42 770名可疑地贫患者中,共确诊地贫患者28 101例,其中β-地贫患者10 891例,包括β-地贫纯合子49例,杂合子10 718例,双重 杂合子124例;患者进行β珠蛋白基因扩增并测序后,发现14种南方常见类型地贫,7种罕见β-地贫突变类型,罕见地贫检出率为17.949％（7/39）.结论 广西地区β-地贫突变类型复杂多样;常规地贫基因检测正常但有地贫表型的患者,应对其进行罕见地贫的检测,减少漏诊,以便更好地为临床开展地贫诊断提供帮助.
英文摘要：
Objective To investigate the occurrence of regular and rare types of beta thalassemia in Guangxi,and to reduce the misdiagnosis and missed diagnosis.Methods Between Jan 2010 and Dec 2013,42 770 patients （20 740 males and 22 030 females,one month to fifty-four years old） from Maternal and Child Healthy Hospital of Guangxi,who were suspected with thalassemia were involved in this study.All these patients were went through the following screening tests：routine blood cell count,hemoglobin electrophoresis test,and serum iron and ferritin tests.Positive patients in the screening test would be taken gene diagnosis with regular reverse dot blot （RDB） method; negative patients in gene diagnosis but positive in the screening test would be under the test of beta globin gene sequencing.Results Totally 28 101 patients were confirmed with thalassemia from 42 770 suspected patients,including 10 891 patients with beta thalassemia,49 patients were homozygous,10 718 patients were heterozygote,and 124 patients were compound heterozygous.After beta globin gene sequencing test,14 regular mutations in people of south China and 7 rare types mutations were detected,the detection rate of rare type of beta thalassemia was 17.949% （7/39）.Conclusions Mutation spectrum of beta thalassemia in Guangxi is complex.Gene diagnosis of rare type thalassemia needs to be done in patients with phenotypes of thalassemia and negative of regular gene diagnosis,in order to reduce misdiagnosis,and improve accuracy of clinical diagnosis.
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