关键词: α地中海贫血, 地贫基因检测, 同型α地贫夫妇

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