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目的研究对羊水检测α-地中海贫血及β-地中海贫血在产前诊断中的临床应用价值,探讨产前筛查和产前诊断在避免重型地中海贫血儿出生中的临床意义。方法应用基因诊断技术对82例携带同型地中海贫血基因的夫妇所孕胎儿的羊水进行地中海贫血基因产前诊断。结果 82例同型地中海贫血基因携带者胎儿羊水中共检出地贫杂合子48例,检出纯合子及双重杂合子12例,血红蛋白H病8例。结论梧州地区是地贫的高发区,加强遗传咨询、婚前、产前检查是很有必要的,对同型地中海贫血基因携带者进行产前诊断,有效预防重型地中海贫血胎儿的出生,提高出生人口素质,具有重要的社会意义。
Objective To investigate the clinical value of amniotic fluid in the detection of α-thalassemia and β-thalassemia in prenatal diagnosis and to explore the clinical significance of prenatal screening and prenatal diagnosis in the prevention of heavy thalassemia. Methods Prenatal diagnosis of thalassemia gene was performed in amniotic fluid of 82 pregnant women carrying the same type of thalassemia gene by gene diagnostic technique. Results A total of 48 thalassemia heterozygotes were detected in 82 cases of homozygous anemia carriers, including 12 homozygous and double heterozygotes and 8 hemoglobin H disease cases. Conclusion Wuzhou is a high prevalence area of thalassemia. It is necessary to strengthen genetic counseling, premarital and prenatal care to prenatal diagnosis of thalassemia carriers and to prevent the birth of thalassemia major and to improve the quality of birth population , Has important social significance.