HK_(αα)地中海贫血的基因诊断及临床表型分析  

Chromosomal microarray analysis on fetues with ultrasound anomalies

作　　者：杜丽[1] 王继成[1] 秦丹卿[1] 胡听听 袁腾龙 张艳霞[1] 梁驹卿[1] 尹爱华[1] 

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）》2017年第3期20-22,共3页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的对HK_(αα)地中海贫血病例进行基因诊断,分析HK_(αα)病例临床表型,为遗传咨询提供指导。方法对在本院就诊的HK_(αα)病例进行血常规、血红蛋白电泳、基因诊断及产前诊断,分析病例的临床表型。结果共检测出HK_(αα)病例33例,包括HK_(αα)/αα15例、--^(SEA)/HK_(αα)16例、α^(WS)α/HK_(αα)1例、-α^(4.2)/HK_(αα)1例。并对5个家庭进行了产前诊断,检出--^(SEA)/HK_(αα)胎儿1例,通过遗传咨询,避免了选择性终止妊娠。结论结论 HK_(αα)地中海贫血的基因诊断可以减少病例的漏诊或误诊,临床表型的分析可以为精准的遗传咨询提供指导。Objective To investigate the gene diagnosis and clinical presentation of HKααthalassemia and to provide an effective genetic counseling.Method Whole blood cell analysis,capillary zone electrophoresis（CZE）,Gap-PCR and polymerase chain reaction-reverse dot blot（PCR-RDB）assay were performed to the HKααThalassemia,and analyze the hematological phenotype data of HKααThalassemia.Results 33 cases of HKααthalassemia were detected,including 15 cases of HKαα/αα、16 cases of --^SEA/HKαα、1 case of α^WSα/HKααand 1 case of -α^4.2/HKαα.5 pedigrees were carried out prenatal diagnosis and 1 fetus of Hb --^SEA/HKααwas detected.The couple choosed to continue the pregnancy.Conclusions Gene diagnosis of HKααthalassemia can make accurate diagnosis,avoiding the misdiagnosis.The analysis of HKααthalassemia clinical presentation can provide an effective genetic counseling.

关 键 词：地中海贫血 基因诊断 HKαα 

分 类 号：R714.5[医药卫生—妇产科学]