Abstract: Objective To investigate incidence rate,mutation types and distribution characteristics of α thalassemia among the fetus of couples with the α thalassemia in Huizhou city,so as to provide a scientific basis for preventing and contro-ling thalassemia. Methods For 154 couples with gene mutation of α thalassemia,fetal villus tissues were collected at the first trimester,cord blood or amniotic fluid were collected at the second trimester,and cord blood were collected at the third trimester.Isitu cultivation was performed for cells in amniotic fluid and villus tissues.Hematology and hemoglobin analysis were performed for cord blood.αthalassemia gene were detected for tissues before and after cultivation or for cord blood. Results Among 154 fetuses,18 cases were definitely diagnosed with severe α thalassemia which accounted for 11.69%,and 75 cases were carriers which accounted for 48.70%,9 cases were definitely diagnosed with HbH disease which accounted for 5.84%,50 cases were healthy which accounted for 32.47%.One case was double heterozygote,the other case was homozygous. Conclusion This study shows incidence rate,mutation types and distribution characteristics of α thalassenlia among the fetus of couples with α thalassemia,which provides a scientific basis for prevention of thalassemia in Hui zhou city.

Key words: α thalassemia, thalassemia gene detection, couples with the α thalassemia

摘要： 目的 研究惠州市同型α地贫夫妇的胎儿地贫发生率、基因突变类型和分布特点,为制订本地区地贫的防治工作计划提供科学依据。方法 154对夫妇均为轻型α地中海贫血基因携带者,在孕早期取胎儿绒毛组织,孕中期取脐血或羊水,孕晚期取脐血;对羊水细胞和绒毛组织进行原位培养,脐血进行血液学和血红蛋白分析,分别采用培养前后的组织或脐血进行α地中海贫血基因检测。结果 在154例胎儿中,检出重型α地中海贫血胎儿18例,检出率为11.69%;检出α地贫携带者75 例,检出率为48.70%;检出缺失型HbH病9例,检出率为5.84%;检出正常胎儿50例,检出率为32.47%;检出纯合子和双重杂合子各1例。结论 本研究描述了惠州市同型α地贫夫妇的胎儿α地贫的发生率,基因突变类型和分布特点,为制订本地区地贫的防治工作计划提供科学依据。

关键词: α地中海贫血, 地贫基因检测, 同型α地贫夫妇