江西赣南地区18704例地中海贫血产前筛查结果分析

Analysis of the prenatal screening results of thalassemia in 18704 outpa-tients in south Jiangxi province

目的对我院近2年来产科门诊地贫筛查18 704例病例进行总结分析。方法选取2014年6月~2016年6月期间在我院产前门诊进行地中海贫血筛查的患者作为研究对象,通过血常规及血红蛋白电泳对其进行地中海贫血初筛;对检查结果为阳性者均进一步进行地中海贫血基因诊断。结果经血常规和血红蛋白电泳筛查检出阳性病例4148例,占22.2%;再对其进行进一步基因检测并确诊为2280例,占55.0%,地中海贫血基因携带率12.2%,其中α地中海贫血携带率为7.7%,β地中海贫血携带率4.5%。其中确诊α地中海贫血1442例,比例最高为--sea/αα,占比51.10%;β地中海贫血838例,比例最高为IVS-2-654,占16.10%。其中有173对夫妻为同型地中海贫血携带者,同为α地中海贫血携带的有131对,同为β地中海贫血携带的为42对,通过羊水产前宫内诊断,确诊为重型α地中海贫血25例,重型β地中海贫血12例。结论选择合理合适的产前筛查和产前诊断技术,不仅对地中海贫血高危孕妇胎儿基因进行早期诊断,可以减轻患者的痛苦,而且对今后采取措施预防和控制重症地贫儿的出生,提高人口质量起到积极的社会意义,同时对保障母体安全,减少给家庭和社会带来沉重的负担有重要意义。

Objective To summarize and analyze the 18704 records of thalassemia screening of our hospital in recent 2 years. Methods Outpatients of the department of prenatal care in our hospital from June, 2014 to June, 2016 who came to get thalassemia screening were selected. Primary screening was done through routine blood test and hemoglobin electrophoresis（HE）. Patients with positive results received gene diagnosis of thalassemia. Results Results of 4148 patients （22.2%） tested by routine blood test and HE were positive. 2280（55.0%） were diagnosed as thalassemia after the gene test. Carrier rate of thalassemia gene was 12.2%. Carrier rate of a-thalassemia gene was 7.7% and that of β-tha- lassemia gene of 4.5%. 1442 patients were diagnosed as a-thalassemia, among which-sea/aa took highest proportion （51.10%）. 838 patients were diagnosed as a-thalassemia, among which IVS-2-654 took highest proportion （16.10%）. 173 pairs of wife and husband carried same type of thalassemia,out of which 131 carried a-thalassemia and 42 carried β-thalassemia. 25 pairs were diagnosed as severe a-thalassemia and 12 as severe β-thalassemia by prenatal diagnosis testing amniotic fluid. Conclusion By choosing proper prenatal screening and diagnosis techniques, it could not only relieve patients＇ pain through the early diagnosis of fetus gene whose mother was under the high risk of thalassemia, but also improve the quality of population, which would be meaningful to the society, through taking interventions to prevent and control the birth of infants with thalassemia. It would also be important for assuring the mother＇s safety and reducing the heavy burden of family and society.