Prenatal diagnosis of a case at-risk for compound heterozygotes of SEA HPFH deletion and β-thalassemia in a Chinese family.

Objective:To perform prenatal diagnosis in a pregnancy with a fetus at-risk for SEA HPFH deletion 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 father was revealed to be a heterozygote for the codons 41-42(-TTCT) mutation,the mother a heterozygote for SEA HPFH deletion and the fetus a heterozygote for the codons 41-42(-TTCT) mutation.Conclusions:For pregnant women whose fetuses are at-risk for a compound heterozygote of SEA HPFH deletion and β-thalassemia,prenatal diagnosis should be done.