黔东南地区地中海贫血基因诊断结果分析(1)
【摘要】 目的：探討分析黔东南地区地中海贫血患者的基因型检测结果。方法：收集2016年10月-2018年10月在黔东南州人民医院行地中海贫血筛查的1 099例各科室住院患者的资料，通过血常规、血红蛋白电泳进行相应的筛查，通过多重聚合酶链反应(PCR)和反向斑点杂交技术相结合的方法对地中海贫血进行基因检测。结果：收集的1 099例标本中，共检测出地中海贫血457例，检出率为41.58%(457/1 099)，其中α-地中海贫血205例，12种基因突变类型，占44.86%(205/457)，--SEA/αα所占比例最高，为65.85%(135/205)，其余类型少见。检测出β-地中海贫血为241例，占52.74%(241/457)，14种突变型，其中βCD41-42/βN的基因型比例最高，为60.17%(145/241)。另外，还检测出11例αβ复合型地中海贫血基因型，占2.41%(11/457)。结论：黔东南地区人群地中海贫血基因型特点为β-地中海贫血>α-地中海贫血>αβ复合型地中海贫血，其中β-地中海贫血主要为βCD41-42/βN，α-地中海贫血主要为--SEA/αα，这可为临床遗传咨询和产前诊断提供相应的依据，减少临床漏诊的发生，具有一定的临床意义。
【关键词】 地中海贫血 基因型 黔东南地区
doi：10.14033/j.cnki.cfmr.2019.32.021 文献标识码 B 文章编号 1674-6805(2019)32-00-03
Genetic Diagnosis of Thalassemia in Southeast of Guizhou Province/LONG Li， YANG Biao， HOU Xiaoliang， FU Min. //Chinese and Foreign Medical Research， 2019， 17(32)： -52
[Abstract] Objective： To explore and analyze the genotype tests results of thalassemia patients in the southeast of Guizhou province. Method： The data of 1 099 inpatients who were screened for thalassemia in genetic diagnosis of thalassemia in People’s Hospital of Qiandongnan Prefecture from October 2016 to October 2018 were collected. Blood routine examination and hemoglobin electrophoresis were used to screen the patients. The gene of thalassemia was detected by polymerase chain reaction (PCR) and reverse dot blot hybridization. Result： A total of 457 cases of thalassemia were detected in 1 099 samples， and the positive rate was 41.58% (457/1 099). Among them， 205 cases were alpha thalassemia with 12 gene mutations， accounting for 44.86% (205/457). The proportion of --SEA/αα was the highest at 65.85% (135/205)， and the other types were rare. There were 241 cases of beta thalassemia， accounting for 52.74% (241/457)， among which βCD41-42/βN genotype was 60.17% (145/241). In addition， 11 cases alpha beta thalassemia genotypes were detected， accounting for 2.41% (11/457). Conclusion： The genotypes of thalassemia are beta thalassemia >alpha thalassemia> alpha beta thalassemia， among them βCD41-42/βN is mainly type of the beta thalassemia， and --SEA/αα is mainly type of the alpha thalassemia， which can provide the corresponding basis for clinical genetic counseling and prenatal diagnosis， and reduce the occurrence of clinical missed diagnosis， and has certain clinical significance.
[Key words] Thalassemia Genotype Southeast of Guizhou province
First-author’s address： People’s Hospital of Qiandongnan Prefecture， Kaili 556000， China, 百拇医药(龙丽 杨彪 侯小良 付敏)
【关键词】 地中海贫血 基因型 黔东南地区
doi：10.14033/j.cnki.cfmr.2019.32.021 文献标识码 B 文章编号 1674-6805(2019)32-00-03
Genetic Diagnosis of Thalassemia in Southeast of Guizhou Province/LONG Li， YANG Biao， HOU Xiaoliang， FU Min. //Chinese and Foreign Medical Research， 2019， 17(32)： -52
[Abstract] Objective： To explore and analyze the genotype tests results of thalassemia patients in the southeast of Guizhou province. Method： The data of 1 099 inpatients who were screened for thalassemia in genetic diagnosis of thalassemia in People’s Hospital of Qiandongnan Prefecture from October 2016 to October 2018 were collected. Blood routine examination and hemoglobin electrophoresis were used to screen the patients. The gene of thalassemia was detected by polymerase chain reaction (PCR) and reverse dot blot hybridization. Result： A total of 457 cases of thalassemia were detected in 1 099 samples， and the positive rate was 41.58% (457/1 099). Among them， 205 cases were alpha thalassemia with 12 gene mutations， accounting for 44.86% (205/457). The proportion of --SEA/αα was the highest at 65.85% (135/205)， and the other types were rare. There were 241 cases of beta thalassemia， accounting for 52.74% (241/457)， among which βCD41-42/βN genotype was 60.17% (145/241). In addition， 11 cases alpha beta thalassemia genotypes were detected， accounting for 2.41% (11/457). Conclusion： The genotypes of thalassemia are beta thalassemia >alpha thalassemia> alpha beta thalassemia， among them βCD41-42/βN is mainly type of the beta thalassemia， and --SEA/αα is mainly type of the alpha thalassemia， which can provide the corresponding basis for clinical genetic counseling and prenatal diagnosis， and reduce the occurrence of clinical missed diagnosis， and has certain clinical significance.
[Key words] Thalassemia Genotype Southeast of Guizhou province
First-author’s address： People’s Hospital of Qiandongnan Prefecture， Kaili 556000， China, 百拇医药(龙丽 杨彪 侯小良 付敏)
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