我院762例地中海贫血产前基因检测的结果分析  

Analysis of prenatal gene detection in 762 cases of thalassemia in our hospital

作　　者：潘锦梅 梁西岚[1] 谭满胜 黎洛冰 陈小乐[1] PAN Jin-mei;LIANG Xi-lan;TAN Man-sheng;LI Luo-bing;CHEN Xiao-le(Prenatal Diagnosis Center,Maoming Maternal and Child Health Hospital of Guangdong Province,Maoming 525000,China)

机构地区：[1]广东省茂名市妇幼保健院产前诊断中心

出　　处：《中国当代医药》2019年第20期82-84,88,共4页China Modern Medicine

摘　　要：目的分析我院762例地中海贫血(简称地贫)产前基因检测的结果。方法收集2016年1月~2018年4月在我院产前诊断中心就诊的762例夫妇双方地贫的孕妇,进行地贫基因检测。结果762例地贫产前基因检测结果显示,夫妇双方α地贫的胎儿地贫基因类型550例(72.18%),夫妇双方β地贫的胎儿地贫基因类型207例(27.17%),夫妇双方α合并β地贫的胎儿地贫基因类型仅有2例。762例受检胎儿中,正常177例(23.23%),静止型α地贫携带者43例(5.64%),轻型α地贫携带者220例(28.87%),轻型β地贫携带者100例(13.12%),中/重型β地贫携带者58例(7.61%),中间型α地贫携带者35例(4.59%),中间型α地贫合并轻型β地贫携带者1例(0.13%),重型α地贫携带者125例(16.40%)。此外,还有3例双胞胎的胎儿地贫基因,孕妇地贫基因类型均为--SEA/aa,配偶基因类型为--SEA/aa2例、aCSa/aa1例。结论茂名市α地贫基因主要突变类型分别为--SEA/αα、αα/αα和--SEA/--SEA,β地贫基因主要突变类型分别为-βCD41-42/βN、βN/βN和βIVS-Ⅱ-654/βN,其中间型及重型地贫发生率也相对较高。茂名市应加强对本地区育龄人群的地贫的筛查和产前的基因诊断工作,避免中/重型地贫患儿出生。Objective To analyze the results of prenatal gene detection in 762 cases of thalassemia in our hospital.Methods A total of 762 pregnant women with thalassemia from January 2016 to April 2018 in the prenatal diagnostic center of our hospital were collected for gene detection of thalassemia.Results Prenatal genetic detection of 762 cases of thalassemia showed that 550 cases (72.18%) of the thalassemia gene types in both couples with α-thalassemia,207 cases (27.17%) of the thalassemia gene types in both couples with β-thalassemia,and only 2 cases of the thalassemia gene types in both couples with α-thalassemia and β-thalassemia.177 (23.23%) were normal,43 (5.64%) were stationary α-thalassemia carriers and 220 (28.87%) were light α-thalassemia carriers of 762 fetuses examined,there were 100 carriers of light β-thalassemia (13.12%),58 carriers of medium to severe β-thalassemia (7.61%),35 carriers of intermediate α-thalassemia (4.59%),1 carriers of intermediate α-thalassemia with light β-thalassemia (0.13%) and 125 carriers of severe α-thalassemia (16.40%).In addition,there were 3 twins with fetal thalassemia gene.The gene type of thalassemia in pregnant women was SEA/aa,and that of spouses was SEA/aa in 2 cases and aCSa/aa in 1 case.Conclusion The main mutation types of α-thalassemia gene in Maoming City are--SEA/alpha,α/α and--SEA/--SEA.The main mutation types of β-thalassemia gene are-βCD41-42/βN,βN/βN and βIVS-Ⅱ-654/βN,among which the incidence of intermediate and severe thalassemia is relatively high.Maoming city should strengthen screening and prenatal genetic diagnosis of thalassemia among the people of childbearing age in this area,so as to avoid the birth of children with moderate or severe thalassemia.

关 键 词：茂名市 地中海贫血 产前基因检测 

分 类 号：R725.5[医药卫生—儿科]