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时间:2020-04-22
《脐血血红蛋白电泳 Hb A值辅助诊断胎儿β-地中海贫血及鉴定母血污染的价值-论文.pdf》由会员上传分享,免费在线阅读,更多相关内容在行业资料-天天文库。
1、现代医院2014年8月第14卷第8期专业技术篇ModemHospitalAug2014Vol14No8脐血血红蛋白电泳HbA值辅助诊断胎儿I3一地中海贫血及鉴定母血污染的价值郭浩郭莉唐斌杜丽骆明勇秦丹卿王奕霞王继成THEHBAOFHEMOGLOBINELECTROPHORESISINPRENATALCORDBL0ODPRE—DICTINGFOR13——THALASSEMIAANDMATERNALCELLCONTAMINATIONGUOHao,GUOLi,TANGBin【摘要】目的探讨胎儿脐血血红蛋白电泳HbA值在孕中、晚期诊断B一地中海贫血以及母血污染鉴定的应用价值。方法收集父母双方为B一地
2、中海贫血携带者作为指征进行产前诊断且孕周为24~28W的胎儿54例。应用全自动毛细管电泳系统对胎儿脐带血进行电泳分析,且采用反向点杂交法检测13地中海贫血基因。结果12例B一地中海贫血基因型正常的胎儿脐带血HbA的平均值为(6.3%±1.9%);31例p杂合突变的HbA值范围为2.6%一3.7%;10例基因纯合突变或双重杂合突变中有6例胎血HbA为0,4例为0.4%~0.7%;母血污染1例。结论脐血血红蛋白电泳HbA值可辅助诊断轻型、中间型及重型胎儿p一地中海贫血,并可以作为母血污染鉴定的一种方法。【关键词】脐血血红蛋白电泳产前诊断B地中海贫血母血污染【Abstract】ObjecfiveT
3、oinvestigatetheperformanceofHbAinthepredictionofprenataldiagnosisingoffoetal13一thalassemiaandtheapplicationofhemoglobineleetrophoresisinthesecondandthirdtrimesterofgestationindetectingforma·temalbloodpollution.MethodsIn54casestherewerepriorscreeningfor13一globindefectsbyHighriskpregnanciesof13一thala
4、ssemia.Thecorebloodsampleswhichwerecollectinginthesecondandthirdtrimesterofgestation(between24—28W)wereperformedfortheprenataldiagnosiswithHemoglobinelectrophoresisandgenetictesting.ResultsTheHbAin12normalcasesand31mildB—thalassemiacaseswereobservedin(6.3%-4-1.9%)and2.6%~3.7%,respectively.10casesof
5、13一thalassemiaincludedHbAwere0(n:6),HbAwere0.4%~0.7%(n=4).Besides,onecasewereSUS—pectedasmaternalcellcontamination.ConclusionTheHbAofhemoglobinelectrophoresiswasanefectivemarkertopre—dicttheB。一thalassemia,mildp—thalassemiaandp—tllalassemiaintermediaforfetuses.Thisstudyhasalsoconfirmedthathemoglobin
6、electrophoresiswasdefinitelyhelpfulindetectingformaternalcellcontamination.【Keywords】Cordblood,Hemoglobinelectrophoresis,Prenataldiagnosis,p—thalassemia,Maternalcellcontamina—tion【AuthorSaddress】GuangDongWomenandChildrenHospital,Guangzhou,Guangdong,511400PRCdoi:10.3969/j.issn.1671—332X.2014.08.029p
7、~地中海贫血是由于血红蛋白B珠蛋白基因突变导致贫血携带者作为指征进行产前诊断且孕周为24~28W的胎p珠蛋白肽链缺如(po)或合成不足(p),从而引起的遗传儿54例。性溶血性贫血病。目前地中海贫血产前诊断报道以基因诊1.2方法断为主,辅助诊断胎儿一地中海贫血的方法学报道较B超介导下经母腹行脐静脉穿刺术,抽取脐带血1ml。多,而辅助诊断胎儿D一地中海贫血的脐血血红蛋白组取18脐带血用90溶血液稀释,采用sebi
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