Ge Qun-Fang, Wang Yi, Zhang Yi, Mu Qi-Tian, Guo Fei, Ouyang Gui-Fang
Department of Hematology, Ningbo First Hospital,Ningbo 315000, Zhejiang Province, China.
Department of Hematology Laboratory, Ningbo First Hospital,Ningbo 315000, Zhejiang Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Dec;28(6):2022-2027. doi: 10.19746/j.cnki.issn.1009-2137.2020.06.037.
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.
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.
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 -- 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%.
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.
探讨非地中海贫血高发地区孕妇地中海贫血的临床特征，预防中间型或重型地中海贫血患儿的出生。
选取2015年3月至2016年4月在我院确诊的235例地中海贫血孕妇，进行回顾性分析。分别采用XN-9000全自动血细胞分析仪和HYDRASYS血红蛋白电泳仪进行血常规及血红蛋白电泳检测。采用荧光熔解曲线分析法检测α地中海贫血最常见的三种缺失型、三种非缺失型α地中海贫血及21种已知的β地中海贫血突变。
235例地中海贫血孕妇中，以β地中海贫血为主，其次为α地中海贫血和复合型地中海贫血。多数孕妇表现为轻度贫血，以小细胞贫血为主，缺铁性贫血较少。二孩孕妇比例增加，在α地中海贫血和β地中海贫血患者中该比例均接近三分之一，75%的患者为复合型地中海贫血。β地中海贫血的本地孕妇中HbF含量较高。α地中海贫血孕妇中易发现血红蛋白异构体，且均为非本地孕妇。地中海贫血本地和非本地孕妇中均以--基因型为主。β地中海贫血本地孕妇及其父母一方为本地孕妇的患者中，IVS-II-654基因型占绝大多数（55.38%）。非本地孕妇中CD41-42、IVS-II-654和CD17基因型占绝大多数，各占30%。
非地中海贫血高发地区发现更多的地中海贫血孕妇，且呈现出独特的临床特征。对其配偶及胎儿进行地中海贫血突变检测，预防中间型或重型地中海贫血患儿出生很有必要。
