利用计划生育三级服务网络对某区地中海贫血群体干预的实践探索

Practice and Exploration on the Interference of Thalassemia in A District by Using Family Planning Three-level Network Service

目的依托完善的计划生育三级服务网络建立地中海贫血干预网络,以达到显著减少番禺区重症地中海贫血患儿出生的目的。方法利用计划生育服务网络的广覆盖性,动员组织番禺区符合计划生育政策的新婚和待孕夫妇参加地中海贫血筛查,通过红细胞体积(MCV)和平均血红蛋白浓度(MCH)初筛,阳性对象用高效液相色谱法(HPLC)进行血红蛋白分析和地中海贫血基因诊断,对地中海贫血基因携带者和高风险家庭进行遗传咨询,高风险胎儿知情选择产前基因诊断。对新生儿情况进行随访,评价干预的准确性。结果全番禺区共筛查28 024个家庭,地中海贫血高风险家庭108个,其中95个家庭进行了产前诊断,确诊重症地中海贫血18例,均终止妊娠。随访显示出生的21 900例新生儿中,无1例重症地中海贫血患婴出生。结论依托于完善的计划生育三级服务网络进行地中海贫血预防和监控模式,建立大人群筛查基础上的前瞻性诊断方式,可以取得良好的成效,是降低本地区重症地中海贫血患儿出生率的有效途径。

Objective To establish the interference network of thalassemia on the basis of perfect family planning three-level network service, and to significantly reduce the birth of children with severe thalassemia in Panyu District. Methods New weddings and couples to be pregnant in Panyu District were admitted to participate in the screening of thalassemia by the wide cover of family planning service system, and all subjects were determined mean corpuscular volume （MCV） and mean corpuscular hemoglobin （MCH）, subjected with positive results were further selected to analyze hemoglobin and thalassemia gene diagnosis by using high performance liquid chromatography （HPLC）, carriers for thalassemia gene and high-risk families were developed genetic counseling, and high-risk fetus were received prenatal gene disgnosis. All neonates were followed up to evaluate the accuracy of this interference. Results A total of 28 024 families in Panyu District participated in our study, and 108 families with high-risk thalassemia were screened, and 95 families among them received prenatal diagnosis, 18 patients were diagnosed as severe thalassemia and terminated pregnancy. Among the 21 900 followed up neonates, no one was suffered from severe thalassemia. Conclusion The prevention and monitoring mode of thalassemia on the basis of perfect family planning three-level network service, and establishing prospective diagnostic mode by screening the adults, can achieve good efficacy, thus it is an effective approach for reducing the birth rate of children with severe thalassemia in Panyu District.