中国南方六省(市)育龄女性珠蛋白生成障碍性贫血初筛阳性情况分析

Analysis of positive results of early screening of women of child-bearing age in six provinces(cities) in southern China

目的分析2016年南方六省(市)(贵州、广西、云南、四川、重庆、湖南)育龄期女性珠蛋白生成障碍性贫血(以下简称地贫)初筛阳性结果的区域性分布情况。方法采用红细胞相关参数、血红蛋白定量分析、红细胞孵育渗透脆性试验(一管法)、变性血红蛋白包涵体四联试验进行地贫初筛,检测南方六省(市)共计222 645例育龄女性样本,并对不同省(市)筛查异常情况进行统计分析。结果六省(市)222 645例样本检出异常样本32 074例,异常检出率为14.39%。各省(市)地贫阳性总检出率按从高到低顺序为广西(24.87%)、四川(17.53%)、云南(14.76%)、湖南(11.53%)、重庆(10.69%)和贵州(8.61%)。其中六省(市)总α、β地贫初筛明确阳性率分别为16.37%、17.81%;具体分布为(α/β):广西(7.06%/5.89%)、四川(2.74%/3.02%)、湖南(1.87%/2.32%)、云南(1.56%/1.57%)、贵州(1.85%/3.04%)和重庆(1.29%/1.97%);六省(市)总α、β地贫初筛疑似阳性率分别为50.56%、3.25%;具体分布为(α/β):广西(11.59%/0.33%)、四川(11.27%/0.50%)、云南(9.58%/2.05%)、重庆(7.35%/0.08%)、湖南(7.12%/0.22%)和贵州(3.65%/0.07%);除地贫筛查外,还可排除部分非小细胞低色素性贫血及异常血红蛋白病。结论南方六省(市)初筛阳性率分布不同,其中以广西最高,四川次之,贵州最低;建议将流入南方人群较多城市及高疟区纳入地贫筛查;采用四联实验方法进行地贫初筛具有较高阳性率,同时可筛查出数量不等的异常血红蛋白病,对于减少漏诊有重要价值;为进一步减少误诊、漏诊,建议将血清铁检测纳入地贫初筛指标;加强对地贫高风险家庭的筛查力度,降低重型地贫患儿出生率,提高人口素质,降低家庭及国家经济负担。

Objective To investigate the regional distribution of positive results of early screening for women of child-bearing agein the six provinces of southern China(Guizhou,Guangxi,Yunnan,Sichuan,Chongqing and Hunan).Methods The screening of all were performed by red blood cell related parameters、quantitative analysis of hemoglobin、Osmotic fragility test of erythrocyte incubation(one tube method)、denatured hemoglobin inclusion body test among 222 645 peoples reproductive age in the six provinces of southern China,and statistical analysis of abnormal screening in different provinces(cities)was carried out.Results Among 222 645 cases in the six provinces(cities),abnormal samples were detected in 32074 cases,and the abnormal detection rate was 14.39%.The total positive detection rate from high to low according to the order of Guangxi(24.87%),Sichuan(17.53%),Yunnan(14.76%),Hunan(11.53%),Chongqing(10.69%)and Guizhou(8.61%).Among the six provinces(city),the totalαandβthalassemia screening positive rate were 16.37%,17.81%,the specific distribution(α/β):Guangxi(7.06%/5.89%),Sichuan(2.74%/3.02%),Hunan(1.87%/2.32%),Yunnan(1.56%/1.57%),Guizhou(1.85%/3.04%)and Chongqing(1.29%/1.97%).The totalαandβthalassemia screening suspected positive rate were 50.56%,3.25%,the specific distribution(α/β):Guangxi(11.59%/0.33%),Sichuan(11.27%/0.50%),(9.58%/2.05%)in Yunnan,Chongqing(7.35%/0.08%),(7.12%/0.22%)of Hunan and Guizhou(3.65%/0.07%).Conclusion The six southern provinces(city)positive screening rate distribution is different,the highest in Guangxi,followed by Sichuan,Guizhou is the lowest;suggestions will flow into the southern city and high malaria area included in in screening of thalassemia.The four-way experiment has a higher positive rate of screening for thalassemia,and screening out the number of abnormal hemoglobin disease,and has great value of reduce the misdiagnosis.In order to further reduce the misdiagnosis,suggested that serum iron detection into thalassemia screening.Strengthen the screening efforts for thalassemia in high risk families,reducing the birth rate of thalassemia major,improve population quality,reduce the economic burden of the family and the country.