深圳龙岗区孕前夫妇地中海贫血筛查及干预状况分析

Screening results and intervention status of thalassemia in pre-pregnancy couples in Longgang District, Shenzhen

目的了解近年来深圳市龙岗区已婚孕前夫妇地中海贫血基因型分布情况,分析已婚孕前夫妇地中海贫血筛查干预状况。方法对本辖区3 399对已婚孕前育龄夫妇地中海贫血知识干预前后问卷;用血常规方法进行初筛,以单或双方MCV和(或)MCH异常定为初筛阳性夫妇,再行血红蛋白电泳,结合HbA2结果定为筛查阳性夫妇,最后做α、β-地中海贫血基因诊断确诊;对高危夫妇给予遗传咨询和追踪随访指导怀孕后接受产前诊断。结果干预后已婚孕前育龄夫妇地中海贫血知识答对率比干预前显著提高(P<0.01);经血常规初筛确定815对为初筛阳性夫妇(24.0%);后经血红蛋白电泳确定303对为筛查阳性夫妇(8.9%);再经地中海贫血基因诊断确诊136对为地中海贫血夫妇(4.0%),其中α、β和αβ复合型地中海贫血分别为181、83和8例。检出常见α-地贫基因型频率依次为--SEA/αα(59.7%)、-α3.7/αα(23.8%)等;检出常见β-地贫基因型频率分别为CD41-42(34.9%)、IVS-Ⅱ-654(28.9%)等;检出高风险家庭17个,夫妇双方均为--SEA/αα。结论龙岗区是地中海贫血高发区,高风险家庭也较多,因此实施孕前人群地中海贫血筛查干预,可有效降低中间型地贫,避免重型地中海贫血患儿的出生,提高辖区出生人口素质。

Objective To understand distribution of thalassaemia geno-type in married couples during pre-pregnancyin Longgang area of Shenzhen City in recent years, and analyze status of screening and intervention for thalassaemia amongmarried couples. Methods A questionnarie on knowledge of thalassaemia before and after 3 399 married couples of child-bearing age before marriage in this district;with blood routine screening, single or both MCV and/or MCH abnormalities wereidentified as the first screening positive couples,then hemoglobin electrophoresis,combined with results of HbA2 as a screeningpositive couple,finally made the diagnosis of α, β-thalassaemia gene diagnosis;high-risk couples were given geneticcounseling and follow up guidance to receive prenatal diagnosis after pregnancy. Results After the intervention, the correctrate of thalassaemia knowledge among married couples of pre-pregnancy age was significantly higher than that before theintervention(P<0.01);815(24.0%) pairs of positive couples were screened by blood routine screening;and 303(8.9%) wereidentified as positive couples by hemoglobin electrophoresis;136(4.0%) were confirmed by thalassaemia gene diagnosis,including 181, 83 and 8 cases of α-,β-and αβ complex thalassaemia, respectively;common α-thalassaemia genotypeswere--SEA/αα(59.7%) and-α3.7/αα(23.8%) etc.;and common β-thalassaemia genotypes were CD41-42(34.9%) and IVS-II-654(28.9%) etc.;17 high risk families were detected, both of couple were--SEA/αα. Conclusion Longgang District is ahigh-risk area of thalassemia, high-risk families are more, so it is necessary to continue to implement pre-pregnancypopulation screening intervention for thalassemia in order to effectively reduce intermediate thalassemia, basically avoid birthof children with severe thalassemia, and improve quality of the birth population in the jurisdiction.