Prenatal diagnosis of a case at-risk for compound heterozygotes of δ β-thalassemia and β-thalassemia in a Chinese family

Objective:To perform prenatal diagnosis in a pregnancy with a fetus at-risk for δ β-thalassemia and β-thalassemia.Methods:PCR-reverse dot blot and long-range PCR methods were used to determine the genotype in the at-risk fetus.Results:The mother was revealed to be a heterozygote for the codons 41-42(-TTCT) mutation,the father a heterozygote for Gγ+(Aγ δ β)0 mutation and the fetus a normal.Conclusions:For those who present a severe β-thalassemia but only one mutation is identified,a deletional β-thalassemia should be suspected with a appropriate diagnostic test to confirm it.