Prenatal Diagnosis of A Case of SEA-HPFH Deletion Combined with Beta-Thalassemia in A Chinese Family / 中国实验血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the prenatal diagnosis of a case of SEA-HPFH deletion combined with beta-thalassemia in a Chinese family.</p><p><b>METHODS</b>Gap-PCR and RDB methods were applied to test the genotype for the family.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>