【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_αα16例、α^WSα/HK_αα1例、-α^4.2/HK_αα1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。更多还原

【Abstract】 Objective To investigate the gene diagnosis and clinical presentation of HK_ααthalassemia 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 HK_ααThalassemia,and analyze the hematological phenotype data of HK_ααThalassemia.Results 33 cases of HK_ααthalassemia were detected,including 15 cases of HK_αα/αα、16 cases of --^SEA/HK_αα、1 case of α^WSα/HK_ααand 1 case of -α^4.2/HK_αα.5 pedigrees were carried out prenatal diagnosis and 1 fetus of Hb --^SEA/HK_ααwas detected.The couple choosed to continue the pregnancy.Conclusions Gene diagnosis of HK_ααthalassemia can make accurate diagnosis,avoiding the misdiagnosis.The analysis of HK_ααthalassemia clinical presentation can provide an effective genetic counseling.更多还原