Prenatal Diagnosis of α-thalassemia by Fetal Hemoglobin Electrophoresis

Objective:To establish a rapid, simple and accurate method for prenatal diagnosis of α-thalassemia.Methods:Cordocentesis was performed for pregnancies at risk for α-thalassemia at second or third trimester of gestation. Fetal blood was tested by hemoglobin electrophoresis.Results:In 110 pregnancies at risk for α-thalassemia, 62 (56.4%)fetuses were found to be affected with Bart's hydrous, 3 (2.7%) fetuses found to be affected with hemoglobin H disease, 26(23.6%) fetuses found to be carriers and 18 (16.4%) fetuses found to be normal.Out of 110 fetuses, the diagnoses of 16 fetuses were confirmed by molecular analysis. Two prenatal diagnoses were performed for β-thalassemia, but fetal hemoglobin electrophoresis revealed the fetuses were affected with Bart's hydrous, suggesting both parents were β-thalassemia carriers compounded with α-thalassemia.Conclusion:Fetal hemoglobin electrophoresis was a useful prenatal diagnosis method for α-thalassemia, and can be used when the at-risk mother was presented late in her gestation.