【摘要】 目的:对1例东南亚缺失型遗传性持续性胎儿血红蛋白增多症(SEA-HPFH)合并β地中海贫血的家系进行产前诊断。方法:采用跨越断裂点聚合酶链反应技术(Gap-PCR)和反向斑点杂交(RDB)方法对该家系进行产前诊断。结果:母亲血液学表型符合缺失型HPFH基因携带者,基因型为SEA-HPFH基因携带者,而父亲血液学表型符合β地中海贫血基因携带者,基因型为IVS-II-654杂合突变,胎儿基因型为未见异常。结论:SEAHPFH基因携带者与β地中海贫血基因携带者婚配后有生育出中、重型β地中海贫血患儿的风险,可通过常见地中海贫血基因检测及缺失型β地中海贫血基因检测进行产前诊断。更多还原

【Abstract】 Objective: To investigate the prenatal diagnosis of a case of SEA-HPFH deletion combined with betathalassemia 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 betathalassemia genes can be used in prenatal diagnosis of the case at risk for compound heterozygotes of SEA-HPFH deletion and beta-thalassemia.更多还原