两广交界地区中重型珠蛋白生成障碍性贫血胎儿基因突变特征及妊娠结局分析

目的探讨产前诊断中重型珠蛋白生成障碍性贫血的类型及分布特征,为珠蛋白生成障碍性贫血防控提供咨询依据。方法对近年来在该院就诊的1274例夫妇为同型珠蛋白生成障碍性贫血基因携带者的孕妇行羊膜腔穿刺术获取胎儿羊水细胞,并进行珠蛋白生成障碍性贫血基因检测与细胞遗传学检查。结果1274例珠蛋白生成障碍性贫血基因产前诊断结果中,共检出320例中重型珠蛋白生成障碍性贫血,占总检人数的25.1%。--SEA/--SEA、--SEA/-α3.7、--SEA/-α4.2、--SEA/αCSα为主要的中重型α珠蛋白生成障碍性贫血基因类型,而重型β珠蛋白生成障碍性贫血基因类型多样,其分布则以βCD41-42/βCD41-42、βCD41-42/βCD17、βCD41-42/βIVS-Ⅱ-654、βCD41-42/β-28、βCD17/β-28、βCD41-42/βCD71-72为主,这10种基因类型占总检出中重型珠蛋白生成障碍性贫血的84%,该地区α合并β珠蛋白生成障碍性贫血携带者的比例为18%。产前诊断胎儿为重型珠蛋白生成障碍性贫血的检出率为7.60%。珠蛋白生成障碍性贫血产前诊断标本中检出16例染色体异常核型,检出率为1.26%。结论利用珠蛋白生成障碍性贫血产前基因诊断可检出中重型珠蛋白生成障碍性贫血胎儿,降低出生缺陷儿的发生率。同型珠蛋白生成障碍性贫血携带夫妇产前诊断时应建议同时行细胞染色体检查,避免染色体患儿的出生。

Analysis of fetal gene mutation and pregnancy outcome in fetuses with moderate and severe thalassemia at the border of Guangdong and Guangxi area

Objective To explore the type and distribution of moderate and severe thalassemia in prenatal diagnosis,and to provide reference for prevention and control of thalassemia.Methods The amniocentesis was performed on 1274 pregnant women who had been treated in our hospital in recent years.The amniocentesis was performed to obtain fetal amniotic fluid cells,and the gene and cytogenetic tests were carried out.Results Among 1274 cases of thalassemia gene prenatal diagnosis results,a total of 320 patients with moderate and severe thalassemia were detected,accounting for 25.1%of the total.--SEA/--SEA,--SEA/-α3.7,--SEA/-α4.2,--SEA/αCSαwere the main genotypes of medium and severe type ofα-thalassemia,while the genotypes of severe type ofβ-thalassemia were diverse,and their distribution was mainlyβCD41-42/βCD41-42,βCD41-42/βCD17,βCD41-42/βIVS-Ⅱ-654,βCD41-42/β-28,βCD17/β-28,βCD41-42/βCD71-72.The percentage of these 10 genotypes of medium and severe type of thalassemias was 84%.The proportion of carriers ofαcomplexβthalassemia in this area was 18%,and the detection rate of fetuses diagnosed as severe thalassemia before delivery was 7.6%.16 cases of chromosome abnormal karyotypes were detected in the samples of prenatal diagnosis of thalassemia,the detection rate was 1.26%.Conclusion Prenatal genetic diagnosis of thalassemia can detect fetuses with moderate to severe thalassemia and effectively reduce the incidence of birth defects.In the prenatal diagnosis of homozygous thalassemia carriers,it is suggested that cell chromosome examination should be performed simultaneously to avoid the birth of children with chromosome disorders.