Objective: To investigate the prenatal diagnosis of a case of SEA-HPFH deletion combined with beta-thalassemia in a Chinese family.
Methods: Gap-PCR and RDB methods were applied to test the genotype for the family.
Results: Mother showed a SEA-HPFH thalasemia trait phenotype, while her genotype was heterozygote for SEA-HPFH deletion; father showed a beta-thalassemia trait phenotype, while his genotype was heterozygote for IVS-II-654 mutation; the genotype of fetus was normal in these tests.
Conclusion: Regular thalassemia genes and deletion beta-thalassemia genes can be used in prenatal diagnosis of the case at risk for compound heterozygotes of SEA-HPFH deletion and beta-thalassemia.