Carrier screening and prenatal diagnosis for thalassemia-associated mutations in Jiaxing area of Zhejiang
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目的 分析浙江嘉兴地区人群地中海贫血(地贫)的分子流行病学数据，为产前诊断、遗传咨询和出生缺陷防控提供科学依据。 方法 选取2017年4月至2021年9月就诊于嘉兴市妇幼保健院的24 003例孕妇作为研究对象，采用毛细管血红蛋白电泳联合血常规检测进行地贫初筛，对初筛阳性者进一步进行地贫基因荧光定量PCR检测，并为具有生育中间型或重型地贫患儿风险的家庭提供产前诊断。 结果 在24 003例孕妇中，1 211例地贫初筛呈阳性，443例确诊为地贫突变携带，总检出率为36.58%(443/1 211)。在443例地贫突变携带者中，α-地贫、β-地贫和α-复合β-地贫突变携带者的占比分别为27.31%(121/443)、70.65%(313/443)和2.04%(9/443)。1个双方携带家系的胎儿产前诊断结果为--SEA/αCSα，预测其临床表型为中间型或重型地贫，建议终止妊娠。 结论 浙江嘉兴地区可将孕期血红蛋白电泳联合血常规检测作为地贫初筛的指标，结合进一步的地贫基因检测，对本地区的地贫防控具有重要的价值。 Objective To study the molecular epidemiology of thalassemia in Jiaxing area of Zhejiang province and provide a basis for prenatal diagnosis, genetic counseling and prevention and control of birth defects. Methods A total of 24 003 pregnant women who presented at the Jiaxing Maternal and Child Health Care Hospital from April 2017 to September 2021 were enrolled. Capillary hemoglobin electrophoresis in combination with routine blood test were used for primary screening for carriers of thalassemia-associated mutations, and those with positive results were subjected to fluorescence quantitative PCR assay. Prenatal diagnosis was provided for couples with a risk of giving birth to children with intermediate or severe thalassemia. Results Among the 24 003 pregnant women, 1 211 cases were suspected as carriers of thalassemia-associated mutations, among whom 443 (36.58%) were confirmed by genetic testing. Among these, carriers of α-, β- and α-complex β-globin gene mutations have accounted for 27.31% (121/443), 70.65% (313/443) and 2.04% (9/443), respectively. The result of prenatal diagnosis for an at-risk couple was -- SEA/αCSα, and the fetus was predicted to have intermediate or severe thalassemia. Termination of the pregnancy was recommended. Conclusion Hemoglobin electrophoresis combined with routine blood test during pregnancy may be used as a preliminary screening measure for carriers of thalassemia-associated variants. Combined with genetic testing, this will be of great significance for the control of thalassemia in this region.
Objective To study the molecular epidemiology of thalassemia in Jiaxing area of Zhejiang province and provide a basis for prenatal diagnosis, genetic counseling and prevention and control of birth defects. Methods A total of 24 003 pregnant women who presented at the Jiaxing Maternal and Child Health Care Hospital from April 2017 to September 2021 were enrolled. Capillary hemoglobin electrophoresis in combination with routine blood test were used for primary screening for carriers of thalassemia-associated mutations, and those with positive results were subjected to fluorescence quantitative PCR assay. Prenatal diagnosis was provided for couples with a risk of giving birth to children with intermediate or severe thalassemia. Results Among the 24 003 pregnant women, 1 211 cases were suspected as carriers of thalassemia-associated mutations, among whom 443 (36.58%) were confirmed by genetic testing. Among these, carriers of α-, β- and α-complex β-globin gene mutations have accounted for 27.31% (121/443), 70.65% (313/443) and 2.04% (9/443), respectively. The result of prenatal diagnosis for an at-risk couple was -- SEA/αCSα, and the fetus was predicted to have intermediate or severe thalassemia. Termination of the pregnancy was recommended. Conclusion Hemoglobin electrophoresis combined with routine blood test during pregnancy may be used as a preliminary screening measure for carriers of thalassemia-associated variants. Combined with genetic testing, this will be of great significance for the control of thalassemia in this region.
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