分类号：R714.53
出版年·卷·期（页码）：2017·9·第3期（20-22）
DOI:
10.13470/j.cnki.cjpd.2017.03.004
-----摘要：-------------------------------------------------------------------------------------------
目的 对HKαα地中海贫血病例进行基因诊断，分析HKαα病例临床表型，为遗传咨询提供指导。方法 对在我院就诊的HKαα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HKαα病例33例，包括HKαα/αα15例、--SEA/HKαα16例、αWSα/HKαα1例、-α4.2/HKαα1例。并对5个家庭进行了产前诊断，检出--SEA/HKαα胎儿1例，通过遗传咨询，避免了选择性终止妊娠。结论 HKαα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。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To investigate the gene diagnosis and clinical presentation of HKαα thalassemia 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 HKαα Thalassemia, and analyze the hematological phenotype data of HKαα Thalassemia. Results 33 cases of HKαα thalassemia were detected, including 15 cases of HKαα/αα、16 cases of --SEA/HKαα、1 case of αWSα/HKαα and 1 case of -α4.2/HKαα. 5 pedigrees were carried out prenatal diagnosis and 1 fetus of Hb --SEA/HKαα was detected. The couple choosed to continue the pregnancy. Conclusions Gene diagnosis of HKαα thalassemia can make accurate diagnosis, avoiding the misdiagnosis. The analysis of HKαα thalassemia clinical presentation can provide an effective genetic counseling.
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杜丽,王继成,秦丹卿,胡听听,袁腾龙,张艳霞,梁驹卿,尹爱华.HKαα地中海贫血的基因诊断及临床表型分析.中国产前诊断杂志,2017,9(3):20-22.
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