468casesofthalassemiaAnalysisofgeneticdiagnosis[Abstract]thalassemia(referredtothepoorisahighlyheterogeneousgroupofhereditaryhemolyticdiseaseofitisduetoglobingenemutations,theglobinbiosynthesisblocked,theoutputisloworabsentduetoourhospitalfrom2005InJune468casesofpregnantwomenweregenotyped,clearlythethalassemiagenotype,tofurtherclarifytheclinicalfetalthalassemiagenotype,andtheimplementationofprenatalandpostnatalcareprovidedbymedicalbasis.[Keywords]prenataldiagnosisofthalassemiaMediterraneananemia(referredtoasthalassemiaisduetodefectscausedbyglobingeneglobinchainsynthesisofabsentorinadequategeneticblooddiseasecausedbyitsmutationsarehighlyheterogeneous,mainly@-@globinandnon--globingenefragmentdeletion(deletion,lessforthebasesubstitution,deletionorinsertionofseveralnucleotides(non-deletion).[1]inourhospitalinJune2005-May2011topoorscreeningof1abnormalpregnantwomen,468casesdetectedbya-thalassemia:normal,3.7,4.2,SEAfourwith,β-thalassemiadetectionofa17-bitpoint18genotypeswereclassified.ofPakistan’sedema,hemoglobindisease,a-thalassemiapureβ-thalassemiaheterozygotesandhomozygotes,orβ-thalassemiadoubleheterozygotefetuseswerediagnosedasthalassemia,recommendedforpregnantwomentoterminatepregnancy.nowthefollowinganalysis:Clinicaldata1.1specimensfromprenatalcaretopoorabnormalscreeningresults(<63%ofpregnantwomen,routinevenousbloodplacedin2mltubescontainingEDTA-Na2fullyshakeanticoagulantanticoagulant.1.2Methods1.2.1a-thalassemiabyDNApolymerasechainreactiongeneamplificationinvitroofnewtechnologies,combinedwithelectrophoresissampleismissingwitha-thalassemiagene.1.2.2β-thalassemiaDNAinvitropolymerasechainreactiongeneamplificationtechnology,combinedwith2dotblothybridizationtodetectgenemutation.1.3InstrumentsandreagentssourceofamplificationwiththeHangzhouBoonFQD-33A,hybridinstrumentXinghuaInstrumentFactoryFYY-3type,electrophoresisXinghuaInstrumentFactoryDY-31Dmodel,UVtransilluminatordaysLongZF-basedtechnology.reagentAsiaBioTechnologyCo.,Ltd.Shenzhen.1.4TheresultsshowninTable1and2.Table1thalassemiagenotypingresultslist/2DiscussionMediterraneananemia(thalassemiaisreferredtoasthesouthernprovincesofChinathemostcommon,mostdangerousgeneticdisease,theincidenceofpeopleupto10%ormore,accordingtoasurveyofpartofthepopulation,inGuangdongandGuangxiprovinces,whocarrythalassemiageneswereup11%and13%[2].thalassemiamajorsub-@-andβ-thalassemiaaretwoto@-thalassemiaismorecommoninthisdiseasewascausedbythehemoglobinmoleculeinthestructuralabnormalitiesofglobinchainsynthesisrateor3abnormal,imbalancecausedbypeptidesgeneratedbythemainsymptomsofhemolyticanemiagroup.thalassemiadiagnosisbasedonclinical,laboratoryandgeneticdiagnosis.thalassemiawasthediversityofclinicalmanifestations,lightnosymptomsandIammoredifficulttodetect,oftendiscoveredbyphysicalexamination,pedigreeanalysisofmildanemiaorwhenthediagnosis.Linkstofreedownloadhttp://eng.hi138.comWescreened468casesofpositivecasesforgenotyping,@-thalassemia266cases,accountingforthetotalnumberofsubjects56.84%,β-thalassemia186cases,accountingforthetotalnumberofsubjects39.74%,a-thalassemiaandβ-doublein3cases,accountingfor0.64%ofthetotalnumberofsubjects,heavy-duty1case,by0.21%ofthetotalnumberofinspection;normalin12cases,accountingfor2.56%ofthetotalnumberofsubjectsinwhich@-thalassemiainaa/SEAmainlyaccountedfor96.61%standard,followedbyaa/4.2accountedfor1.8%,aa/3.7accountedf...