东南亚缺失型遗传性持续性胎儿血红蛋白增多症伴β地中海贫血一个家系的产前诊断

发布时间：2018-01-19 06:18

本文关键词： SEA-HPFH β地中海贫血基因型产前诊断　出处：《中国实验血液学杂志》2017年04期 　论文类型：期刊论文

【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。
[Abstract]:Objective: to study a case of SEA-HPFH in a case of hereditary persistent fetal hemoglobinemia with deletion type in Southeast Asia. Prenatal diagnosis in pedigrees with 尾 -thalassemia. Methods: Gap-PCR and reverse dot blot hybridization were used to detect 尾 -thalassemia. Methods Prenatal diagnosis was carried out in this pedigree. Results: the maternal hematologic phenotypes were carriers of HPFH gene. The genotype was SEA-HPFH gene carrier, while the father's hematologic phenotype was consistent with 尾 -thalassemia gene carrier, and the genotype was IVS-II-654 heterozygosity. Conclusion there is a risk of severe 尾 thalassemia in children with severe 尾 thalassemia after mating with 尾 -thalassemia gene carriers. Prenatal diagnosis can be made by the detection of common thalassemia gene and deletion 尾 -thalassemia gene test.
【作者单位】：福建省妇幼保健院福建医科大学附属医院福建省产前诊断与出生缺陷重点实验室;
【基金】：福建省科技厅重大专项资助项目[2013YZ0002-1] 福建省临床重点专科建设资助项目[20121589] 福建省自然科学基金资助项目[2012J01311] 福建省卫生计生委医学创新课题资助项目[2012-CX-9];福建省卫生计生委中青年骨干人才培养资助项目[2013-ZQN-ZD-6]
【分类号】：R714.5
【正文快照】： J Exp Hematol 2017;25(4):1142-1146β地中海贫血是一种常见的单基因遗传性疾病,主要是由于点突变导致β珠蛋白肽链合成减少或缺乏而引起的血液系统疾病,临床表现多样,表现为不同程度的贫血[1]。遗传性持续性胎儿血红蛋白增多症(hereditary persistence of fetal hemoglobin,

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