地中海贫血的产前筛查和基因诊断作者：包碧惠1,胡华1,姚宏1,张晓莉2单位：第三军医大学西南医院:1妇产科,2检验科，重庆摘耍:目的分析孕妇血液学指标・地中海贫血(简称地贫)各基因型的关系，探讨地贫产前筛杳的町靠依据。方法在本院所有产前检查人群中广泛开展地贫的血液学筛杳，进行阳性病例基因检测，确诊厉筛杏配偶，夫妇患同型地贫者进行产询诊断;疑似β地贫夫妇行β基因突变热点测序、比对，探查未知突变。结果疑似地贫孕妇115例，确诊73例，夫妇同患α地贫1对、β地贫3对，产前诊断重型地贫患儿3例。Hb、MCV、RBC、RDW、HbA2在α、β、α/β与β/β间差异有统计学意义(P<O.01)。疑似β地贫的样本大多呈2〜5个SNP杂合状态。结论重庆为β地贫的高发区，红细胞参数和疋量血红蛋白电泳是筛查地贫的重耍指标，gap-PCR、PCR-RDB、基因测序可明确诊断，切实干预地贫的出生缺陷。关键词:地中海贫血;产前筛查;基因诊断中图法分类号:R446.9;R556.61;R714.55文献标识码:APrenatalscreeningandgeneticdiagnosisofthalassemiaBAOBi-hui1,HUHual,YAOHong1,ZHANGXiao-li2,CHANGQing1(1DepartmentofGynaecologyandObstetrics,2DepartmentofClinicalLaboratories,SouthwestHospital,ThirdMilitaryMedicalUniversity,Chongqing400038,China)Abstract:ObjectiveToexplorereliableevidencesforthalassemicprenatalscreeningbyinvestigatingthecorrespondingrelationshipofhematologicindexesandthalassemicgenotypesinpregnantwomen.MethodsGenerallyhematologicdetectionforthalassemiawascarriedoutontheperipheralvenousbloodsamplesofallprenatalchecked-upexpectantmother.Thosesuspectablethalassemicsuffererswerefurtheridentifiedbygenediagnosis,andthenthehusbandwasdetectedwhenhiswifewasthalassemicpatien.tForthecouplewithsamethalassemiagenetype.prenataldiagnosiswasconducted.Genesofsuspectableβ寸halassemiccouplesweresequenced,andmutationalhotspo(sofβ-globinwerestudiedbyBLASTtoexploreunknownmutation.ResultsTotally115pregnantwomenweresuspectablethalassemia,and73casesamongthemwerefinaldiagnosed.Therewas1coupleofsimultaneousα・thalassemia,and3couplesofβ-thalassemia・Prenataldiagnosisfound3fetuseswithseriousthalassemia・Hb、MCV，RBC,RDWandHbA2hadstatisticalsignificancebetweenα,β,α/βandβ/β(P<O.01).Therewereabout2to5SNPinthesuspectableβ・thalassemia.ConclusionThalassemiaisquitecommoninChongqing・Redcellparametersandquantitativehemoglobinelectrophoresisareimportantinallscreeningindexes・Gap-PCRfCR-RDBandgeneticsequencesanalysisshouldbeusedtodiagnoseexactlysoastopreventthalassemicbirthdefec.tKeywords:thalassemia;prenatalscreening;genediagnosis地中海贫血(简称地贫)严重影响人类健康和出生质量,全球约18亿人为无明显症状的携带者，每年出牛的100万缺陷患儿中，各类呈进行性溶血性贫血的重症地贫患儿至少20万［1］。我国长江以南为地贫高发区。为提高重庆市围生期保健质量,探讨以预防为主的防治方案，实现地贫携带者优生，我们将本院近1年确诊地贫的妊娠夫妇及胎儿的血液筛查资料进行总结,现报告如下。1资料与方法1.1对彖2006年9刀金2007年6刀在本科门诊行产前检查的孕妇共231()例，红细胞指标异常并排除缺铁及其他贫血疾病,纳入疑似地贫115例。确诊地贫孕妇的丈夫73例;同型地贫夫妇的胎儿4例;地贫母亲的新生儿69例。1.2方法1.2.1筛查方法血细胞口动分析仪平行筛查血红蛋白(Hb)、平均血红蛋白(MCH)、红细胞数(RBC)、平均红细胞体积(MCV)、红细胞体积分布宽度(RDW),测定血淸铁蛋口、血红蛋白A2(HbA2)及抗碱血红蛋白(HbF)的含量。Hb<l10g/L>MCH<25pg、MCV<8()fl.RBC/MCV>6、RBC/Hb>27.7、RDW>15.0%,血清铁蛋白正常,示地中海贫血筛查阳性。血红蛋白电泳HbA2<2.5%,示α地贫表型阳性;HbA2≥3.5...
