梅州市城区孕产妇地贫筛查及基因确诊的调查分析

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目的:调查分析梅州市城区孕产妇及其丈夫地贫患病情况。方法:选择2013年1月至2016年12月梅州市城区围生期贫血孕产妇5929例和丈夫746例为研究对象,对调查对象进行血常规、血红蛋白电泳及基因确诊,并根据检测结果进行统计分析。结果:地贫阳性病例2468例,地贫阳性率为36.97%,其中产妇阳性率为32.99%,丈夫68.63%,丈夫阳性率显著高于产妇阳性率,差异有统计学意义(P<0.05)。其中α地贫阳性率25.11%,产妇21.89%,丈夫42.62%;β地贫阳性率10.25%,产妇9.28%,丈夫17.96%;α合并β地贫阳性率2.70%,产妇2.51%,丈夫4.16%;α地贫的阳性率显著高于β地贫阳性率,差异有统计学意义(P<0.05);β地贫的阳性率显著高于α合并β地贫阳性率,差异有统计学意义(P<0.05)。夫妻α同型率为29.69%,夫妻β同型率14.84%,无夫妻α合并β同型病例,夫妻α同型显著高于夫妻β同型,差异有统计学意义(P<0.05)。结论:以孕产妇及其丈夫为对象进行地贫检查的模式,对预防和控制中、重型地贫新生儿出生有着重要的意义。 Objective: To investigate and analyze the prevalence of thalassemia among pregnant women and their husbands in Meizhou City. Methods: From January 2013 to December 2016, 5929 pregnant women with perinatal anemia and 746 husbands in Meizhou City were enrolled in this study. The blood samples, hemoglobin electrophoresis and gene diagnosis of the surveyed subjects were collected and statistically analyzed according to the test results analysis. Results: The number of positive cases of thalassemia was 2468 cases, the positive rate of thalassemia was 36.97%. The positive rate of maternal was 32.99% and the incidence of her husband was 68.63%. The positive rate of husband was significantly higher than that of maternal. There was significant difference (P <0.05). The positive rate of α-thalassemia was 25.11%, maternal 21.89%, husband 42.62%; β-thalassemia positive rate 10.25%, maternal 9.28%, husband 17.96%; α with β-thalassemia positive rate 2.70%, maternal 2.51%, husband 4.16% ; the positive rate of α thalassemia was significantly higher than that of β thalassemia, the difference was statistically significant (P <0.05); the positive rate of β thalassemia was significantly higher than that of α combined with β thalassemia, the difference was statistically significant (P < P <0.05). The average homomorphic rate was 29.69% for couples and 14.84% for couples with the same type of β. There was no significant difference between the two groups (P> 0.05). Conclusion: The mode of thalamic examination for pregnant women and their husbands is of great significance in preventing and controlling the birth of newborn babies in middle and heavy thalamic regions.
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