一种小片段缺失型β地中海贫血的血液学特征分析和产前诊断  

Hematological analysis and prenatal diagnosis ofβ-thalassemia caused by a rare small deletion

作　　者：王继成[1] 姚翠泽 秦丹卿[1] 黄华洁 袁腾龙 杜丽[1] Wang Jicheng;Yao Cuize;Qin Danqing;Huang Huajie;Yuan Tenglong;Du Li

机构地区：[1]广东省妇幼保健院医学遗传中心、广东省妇幼代谢与遗传病重点实验室,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2020年第4期32-35,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广东省医学科学技术研究基金项目(B2019150)。

摘　　要：目的分析一种因β珠蛋白基因小片段缺失所致的β地中海贫血患者的血液学特征,并对3个家系实行地中海贫血的产前诊断。方法应用血红蛋白电泳和血常规检测对所有采集的外周血标本进行血液学指标分析,使用PCR-流式荧光杂交法和sanger测序的方法进行地中海贫血的基因诊断和产前诊断。结果基因检测一共发现7例HBB:c.268_281delAGTGAGCTGCACTG(CD89-93-14bp)杂合突变的β地中海贫血携带者,表现为与常见β0地中海贫血相似的小细胞低色素性贫血。3个家系的产前诊断结果显示2例为这种小片段缺失突变的携带者,1例未遗传到父母的突变基因型。结论上述小片段缺失是一种导致β0地中海贫血的移码突变,这种突变不包含在临床上常见的17种β地中海贫血突变基因检测范围内。当其复合其他β珠蛋白突变时可引起中重型β地中海贫血,所以精确诊断此种突变对产前诊断和遗传咨询具有重要价值。Objective To analyze the hematological characteristics ofβ-thalassemia patients caused by a rare small deletion ofβglobin gene,and carry out prenatal diagnosis of thalassemia in three families.Methods Hemoglobin electrophoresis and blood routine test were used to analyze the hematological indexes of all peripheral blood samples.PCR-Flow fluorescent hybridization and Sanger sequencing were performed to gene diagnosis and prenatal diagnosis of thalassemia.Results 7 carriers with HBB:c.268_281delAGTGAGCTGCACTG(CD89_93-14bp)heterozygous mutation ofβ-thalassemia were found by gene detection.All the carriers showed small cell hypopigmentation anemia,which was similar to that of the commonβ0-thalassemia.The prenatal diagnosis of three families showed that two cases were carriers of this small deletion mutation and one case was not inherited from his parents’mutants.Conclusion Above rare small deletion is a frameshift mutation that causesβ0-thalassemia.This mutation is not included in the range of 17 commonβ-globin mutation genes detected in clinic.When it is compound with otherβ-globin mutations,it can cause moderate and severeβ-thalassemia,so accurate diagnosis of this mutation is useful in prenatal diagnosis and genetic consultation.

关 键 词：Β地中海贫血 小片段缺失突变 产前诊断 

分 类 号：R714.56[医药卫生—妇产科学]