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目的探讨血常规初筛、基因检测在地中海贫血中的临床价值。方法对92对夫妇施行血常规、地中海贫血基因检测,统计92对夫妇地中海贫血类型临床筛查结果及地中海贫血确诊率。结果夫妇双方基因检测结果 :夫妇双方α标准型地中海贫血14例,双方轻型β地中海贫血6例,双方α标准型和静止型地中海贫血5例,双方α/β地中海贫血15例。单方基因检测结果 :双方中一方为α地中海贫血另一方为β地中海贫血14例,一方为α或β地中海贫血另一方正常的17例,双方地中海贫血基因携带21例。随访,怀孕后需要进行产前诊断的孕妇结果有3例怀有重症地中海贫血患儿,对其施行了引产术。结论对孕妇进行产前筛选的结果来看,必须要对地中海贫血患者的基因进行认真的研究分析,其目的是避免出现重型地中海贫血患儿,对患儿的伤害降到最低,还能提高人口质量与素质。
Objective To investigate the clinical value of blood routine screening and genetic testing in thalassemia. Methods A total of 92 couples were enrolled in the routine blood test and thalassemia gene test, and the clinical screening results of 92 couples with thalassemia and the diagnosis of thalassemia were analyzed. Results The results of the genetic tests on both sides of the couple showed that there were 14 cases of α-thalassemia in both sides, 6 cases of both β-thalassemia and β-thalassemia and 5 cases of α-thalassemia in both sides. Unilateral gene test results: In both sides of the α-thalassemia other β-thalassemia in 14 cases, one side of α or β thalassemia normal 17 cases, both sides of the thalassemia gene carrying 21 cases. Follow-up, pregnant women need to be prenatal diagnosis of pregnancy results in 3 cases of children with severe thalassemia, the implementation of induced abortion. Conclusions The results of prenatal screening for pregnant women show that the genes of patients with thalassemia major must be carefully studied and analyzed in order to avoid the occurrence of children with thalassemia major, to minimize the harm to children and to increase the population Quality and quality.