ABSTRACT
Objective To explore the effective means and important significance for preventing the born of neonatal patients with severe thalassemia.Methods Among the pregnant women and spouses receiving prenatal examination in our hospital from January 2013 to December 2015 were performed the thalassemia screening and gene diagnosis,49 couples carrying the same type thalassemia were conducted the prenatal amniotic fluid thalassemia gene diagnosis and follow up after prenatal diagnosis.Results In 49 couples carrying the same type thalassemia,the main gene mutation types of α-thalassemia detected by the gene diagnosis were --SEA/aα(50.0％),-α3.7/αa (36.5％) and-α4.2/αa (11.5％),which of β-thalassemia were CD17/N(42.0％),CD41-42/N (26.0％) and IVS-Ⅱ-654/N(22.0％).The results of prenatal diagnosis showed that there were 4 cases of HbH disease,2 cases of Bart's hydrops fetus,10 cases of severe β-thalassemia,19 a-thalassemia carriers,10 β-thalassemia carriers,1 case of co-inheritance of a-and β-thalassemia,and 3 health fetuses.The follow up results were consistent with those of prenatal diagnosis.Conclusion Conducting prenatal screening and diagnosis of thalassemia in pregnant women can effectively prevent the birth of neonatal patients with severe thalassemia.