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目的控制地中海贫血患儿的出生。方法在孕17~38w取脐带血1088例进行α和β地中海贫血基因检测。结果602例脐带血进行α地中海贫血基因检测,检出Hb Bart′s症180例、Hb H病21例和基因携带者268例;479例脐带血进行β地中海贫血检测,检出纯合子或双重杂合子124例和杂合子237例;7例脐带血进行α和β地中海贫血检测,均检出地中海贫血,包括CD41-42/CD26合并α地中海贫血携带2例。所有Hb Bart′s症和β地中海贫血纯合子和双重杂合子胎儿均终止妊娠。结论采用脐带血进行地中海贫血产前诊断能有效地减少该类患儿的出生。
Objective To control the birth of children with thalassemia. Methods 1088 umbilical cord blood samples were taken from 17 to 38 weeks of gestation to detect the gene of α and β thalassemia. Results A total of 602 cases of umbilical cord blood were tested for α-thalassemia gene. 180 cases of Hb Bart’s disease, 21 cases of Hb H disease and 268 cases of gene carriers were detected. 479 cases of umbilical cord blood were tested for β-thalassemia, and homozygous or double 124 cases of heterozygote and 237 cases of heterozygote; 7 cases of umbilical cord blood were detected for α and β thalassemia, both of them were detected thalassemia, including 2 cases of CD41-42 / CD26 with α-thalassemia. All Hb Bart’s disease and β-thalassemia homozygotes and double heterozygous fetus termination of pregnancy. Conclusion The prenatal diagnosis of thalassemia using cord blood can effectively reduce the birth of these children.