Objective: To investigate the clinical features of pregnant women with thalassemia in non endemic area, and to prevent the births of babies with intermedia or major thalassemia.
Methods: Two hundred and thirty-five pregnants women with thalassemia diagnosed from March 2015 to April 2016 in our hospital were enrolled and retrospectively analysed. The blood routine and hemoglobin electrophoresis were performed respectively by XN-9000 automatic blood cell analyzer and HYDRASYS hemoglobin electrophoresis apparatus. The three commonest deletion of α-thalassemia, the three non-deletion α-thalassemia and 21 known β-thalassemia mutation were all detected by fluorescence melting curve analysis.
Results: Among 235 pregnant women of thalassemia, the majority were β-thalassemia, which were followed by α-thalassemia and composite thalassemia. Most pregnant women showed a mild anemia, and suffered from microcytic anemia, but less suffered from iron deficiency anemia. The ratio of second-child pregnant women was increased, and the ratio was close to one third both in α-thalassemia and β-thalassemia patients, and 75% patients were composite thalassemia. HbF was found to be more in native pregnant women with β-thalassemia. Hemoglobin isomer was easy to found in the pregnant with α-thalassemia, and they were all non native. The genotype of --sea were found majority in both native and non native pregnant women with thalassemia. The genotype of IVS-II-654 made up a large majority(55.38%) in native pregnant with β-thalassemia, as well as one of whose parents was native pregnant women. The genotypes of CD41-42,IVS-II-654 and CD17 were found to be a large majority in non native pregnant women, each of them accounted for 30%.
Conclusion: More pregnant women with thalassemia are founded to be in non endemic area, and shows their own unique clinical features. It is certainly to detect thalassemia mutation in their spouse and their babies, to prevent the births of babies with intermedia or major thalassemia.
题目: 非高发地区地中海贫血孕妇临床特点分析.
目的: 探索非高发地区地中海贫血孕妇的特点，减少中间型及重型地中海贫血患儿的出生.
方法: 回顾性分析宁波市第一医院2015年3月至2016年4月诊断的235例地中海贫血孕妇，采用XN-9000 全自动血细胞分析仪进行血常规检测，采用HYDRASYS血红蛋白电泳仪进行血红蛋白电泳检测，利用荧光PCR熔解曲线法检测常见的3种缺失型和3种非缺失型α型地中海贫血以及21种突变的β型地中海贫血.
结果: 235例地中海贫血孕妇中β地中海贫血占大多数，其次为α地中海贫血和复合型地中海贫血。大多数孕妇处于轻度贫血状态，表现为小细胞性贫血，但合并缺铁性贫血(IDA)者少见。二胎孕妇比例明显升高，α地中海贫血和β地中海贫血中比例接近1/3，复合型地中海贫血中占75%。血红蛋白电泳中出现HbF的多见于β地中海贫血，且在本籍孕妇中多见。血红蛋白异构体易见于α型地中海贫血孕妇，且均为非本籍孕妇。α型地中海贫血孕妇中无论本籍孕妇还是非本籍孕妇均以--sea基因型最多，β型地中海贫血孕妇中，本籍孕妇及父母一方为本籍孕妇均以IVS-II-654基因型最多，占55.38%，而非本籍孕妇中以CD41-42、IVS-II-654和CD17 这3种基因型最多，占30.
结论: 地中海贫血孕妇在非高发地区并不少见，并且有自身独有的特点，需引起重视。对该类孕妇配偶需进行地中海贫血基因检测，及时对高危胎儿行进一步遗传学检查，避免中间型及重型地中海贫血胎儿出生.