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目的了解近年来广州市孕前人群地中海贫血基因型分布情况,并对孕前人群地中海贫血干预模式效果进行探讨。方法利用聚合酶链反应(PCR)和膜杂交法对2014年7月1日到2015年9月30日送检到我中心的1909对(共3818例)单方或双方地贫初筛阳性夫妇标本进行血红蛋白分析及α-与β-地中海贫血的基因型分析,双方均为高风险者追踪随访督导怀孕后接受产前诊断。结果 1在通过基因检测确诊的1657例地中海贫血患者中,α,β,αβ复合型地中海贫血分别为1110、492和55例。检出常见α-地贫基因型频率依次为68.11%(--SEA/αα)、15.59%(-α3.7/αα)、5.59%(-α4.2/αα)、3.96%(αQSα/αα)、2.07%(αWSα/αα)、1.53%(αCSα/αα),并发现2例--SEA/HKαα;检出常见β-地贫基因型频率分别为β41-42(-TCTT)(33.33%)、βIVS-2-654(C→T)(25.20%)、β-28(A→T)(22.96%)、βCD17(A→T)(9.35%)、βCD71-72(+A)(3.46%)等;2高风险家庭91个,其中已孕26个,除2例外均愿意作产前诊断,已做产前诊断17例,1例为中间型,7例为地贫携带者,9例为正常。结论广州市是地贫高发城市,建立孕前人群地贫防控干预模式可有效降及重型地中海贫血患儿的出生。
Objective To understand the distribution of thalassemia genotype in preconception population in Guangzhou in recent years and to explore the effect of intervening thalassemia model in preconception population. Methods A total of 1909 pairs (3818 patients) of single positive or negative couples of thalassemia positive screening specimens submitted to our center from July 1, 2014 to September 30, 2015 were collected by polymerase chain reaction (PCR) and membrane hybridization. Hemoglobin analysis and genotyping of a-and β-thalassemia were performed, and both were at high risk for follow-up monitoring of prenatal diagnosis after pregnancy. Results 1 Among the 1657 thalassemia patients diagnosed by genetic testing, 1110, 492 and 55 cases of thalassemia major were α, β and αβ, respectively. The frequencies of the common α - thalassemia genes were 68.11% (- SEA / αα), 15.59% (- α3.7 / αα), 5.59% (- α4.2 / αα) and 3.96% ), 2.07% (αWSα / αα) and 1.53% (αCSα / αα), and found 2 cases of - SEA / HKαα.The frequencies of common β-thalassemia genes were detected as β41-42 (-TCTT) (33.33% ), ΒCDS-2-654 (C → T) (25.20%), β-28 (A → T) (22.96%), βCD17 (A → T) %), Etc .; 2 91 high-risk families, of which 26 have been pregnant, with the exception of 2 are willing to make prenatal diagnosis, prenatal diagnosis has been done in 17 cases, 1 case of intermediate type, 7 cases of carriers of thalassemia, 9 Example is normal. Conclusions Guangzhou is a high incidence of thalassemia. Establishment of pre-pregnancy prevention and control of thalassemia population can effectively reduce the birth of children with thalassemia major.