娄底市育龄人群地中海贫血筛查与诊断结果分析

Analysis of Thalassemia Screening and Gene Diagnosis Among People of Childbearing Age in Loudi City

目的了解湖南娄底市育龄人群地中海贫血基因型分布情况。方法通过血液学表型分析、PCR和导流杂交技术对娄底市育龄人群进行地中海贫血筛查和基因诊断。结果2021年娄底市育龄人群地中海贫血电泳筛查数为7320例,初筛阳性数为1633例,其中进行地中海贫血基因诊断592人,检出地贫基因携带136例,其中α地贫基因携带73例(12.33%),β地贫基因携带59例(9.97%),α地贫基因合并β地贫基因携带4例(0.68%)。α地贫以--SEA/αα(41.1%)、-α3.7/αα(36.99%)、-α4.2/αα(13.71%)为主,β地贫以IVS-Ⅱ-654(C>T)(33.9%)、CD41-42(-TTCT)(32.2%)、CD17(AAG>TAG)(22.03%)为主。结论娄底市地贫基因携带率及基因型分布与湖南省的分布特点基本相符,为预防重型地贫患儿出生,应加强地贫防控工作,引导育龄人群进行地中海贫血筛查和基因诊断。

Objective To analyse the results of screening and genetic diagnosis of thalassemia in childbearing age people in Loudi City.Methods The blood samples with childbearing age populations in Loudi City were screened for thalassemia by phenotypic analysis with hematological screening,molecular analysis with PCR and flow-through hybridization technology.Results 7320 people of childbearing age were screened by hemoglobin electrophoresis from January to December 2021 in Loudi City,1633 positive cases in primary screening.136 cases were diagnosed as thalassemia among 592 cases,including 73 cases ofα-thal(12.33%),59 cases ofβ-thal(9.97%)and 4 cases ofα-thal combined withβ-thal(0.68%).The main types ofα-thal were--SEA/αα(41.1%),-α3.7/αα(36.99%),-α4.2/αα(13.71%),The main types ofβ-thal were IVS-//-654(C>T)(33.9%),CD41-42(-TTCT)(32.2%),CD17(AAG>TAG)(22.03%).Conclusion The distribution of thalassemia genotype in Loudi City is consistent with other city in Hunan province,to prevent the birth with severe case of thalassemia,We should strengthen the prevention and control of thalassemia,To guide people of childbearing age to receive thalassemia screening and genetic diagnosis.