广州地区婚前孕前人群珠蛋白生成障碍性贫血基因检测结果分析

目的　了解广州地区婚前和孕前人群珠蛋白生成障碍性贫血的基因突变类型和构成比，并对其防控效果进行探讨。方法　选取2018 年参加广州市免费婚前和孕前优生健康检查项目中血细胞检测初筛阳性夫妇12 572 对，进行血红蛋白电泳及基因检测。随访高风险家庭至孕后，并追踪其产前诊断结果。结果　①经基因确诊珠蛋白生成障碍性贫血携带者10 209 例，其中α- 为7 026 例，β- 为2 805 例，αβ 复合型为378 例。② α- 珠蛋白生成障碍性贫血基因以缺失型为主，基因型以--SEA/αα 为主，占64.59％，β- 珠蛋白生成障碍性贫血基因型以CD41-42/N 为主，占38.97％。③在αβ 复合型珠蛋白生成障碍性贫血携带者中共检出46 种基因型，以--SEA/αα 和CD41-42/N 双重杂合子最常见，占19.84％。④ 478 个高风险家庭中已孕197 个，最终确诊重型珠蛋白生成障碍性贫血胎儿42 例，均知情选择终止妊娠。结论　广州地区是珠蛋白生成障碍性贫血的高发区，对婚前和孕前人群开展珠蛋白生成障碍性贫血筛查, 可更有效预防重型珠蛋白生成障碍性贫血患儿出生。

Analysis on the Results of Thalassemia Gene Detection in Pre-Marital andPre-Pregnancy Population of Guangzhou

Objective　To investigate the distribution of the thalassemia genotype among pre-marital and pre-pregnancypopulation in Guangzhou, and explore prevention and control effect of thalassemia. Methods　The couples who attendedthe free pre-marital and pre-pregnancy health examination of Guangzhou in 2018 were recruited. Cases with screeningpositive in thalassemia were both given hemoglobin electrophoresis analysis and gene test. The couples who had fetus withrisk of severe thalassemia would be suggested to take prenatal diagnosis and be followed up. Results　① 10 209 cases werediagnosed as thalassemia carriers, including 7 026 α-thalassemia, 2 085 β-thalassemia and 378 αβ-thalassemia. ② --SEA/αα was the most common genotype of α-thalassemia (64.59%) ,and CD41-42/N was the main genotype of β-thalassemia(38.97%). ③ A total of 46 genotypes were detected in the carriers of αβ-thalassemia, --SEA/αα combined with CD41-42/N is the main gene mutation type. ④ 478 couples who had fetus with risk of severe thalassemia were found, and 197 ofthem had been pregnant.42 fetuses were diagnosed definitely as severe thalassemia，and all of them terminated pregnancyafter prenatal diagnosis. Conclusion　Guangzhou is a high incidence area of thalassemia. Screening and diagnosis of thalassemiain pre-marital and pre-pregnancy population can effectively control the birth of children with severe thalassemia.