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目的探讨地中海贫血基因检测技术在厦门地区不孕不育患者中的运用价值。方法对2015年4月~2017年5月来我院生殖中心就诊的患者1896例进行血常规、地中海贫血基因及血红蛋白电泳,并对结果进行分析。结果厦门地区地区不孕不育患者地中海贫血检出率为12.89%,α-地中海贫血143例,β-地中海贫血109例,α-地中海贫血合并β-地中海贫血4例,其中SEA杂合缺失的α地中海贫血检出最多,占到地中海贫血的59.38%;血常规正常患者地中海贫血检出率远远低于异常患者(P<0.05)。结论地中海贫血基因检测技术是不孕不育人群地贫检出的有效手段,可以联合MCV、MCHC、血红蛋白电泳进行地贫的诊断,杜绝重症型地贫和减少地贫携带者患儿的出生。
Objective To explore the value of detection of thalassemia gene in infertility patients in Xiamen. Methods From January 2015 to May 2017, 1896 cases of blood and thalassemia gene and hemoglobin electrophoresis in 1896 patients from our reproductive center were analyzed and the results were analyzed. Results The detection rate of thalassemia in infertility patients in Xiamen was 12.89%, 143 cases of α-thalassemia, 109 cases of β-thalassemia, 4 cases of α-thalassemia combined with β-thalassemia, and the heterozygous deletion of SEA α thalassemia was detected the most, accounting for 59.38% of thalassemia; and the detection rate of thalassemia in patients with normal blood was much lower than that of abnormal patients (P <0.05). Conclusion The detection of thalassemia gene is an effective method to detect thalassemia in infertile population. The diagnosis of thalassemia can be combined with MCV, MCHC and hemoglobin electrophoresis to prevent the birth of severe thalassemia and reduce the incidence of thalassemia carriers.