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Please use this identifier to cite or link to this item: https://saber.ucv.ve/jspui/handle/10872/4707
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dc.contributor.authorGarcia Gimenez, Odalis-
dc.contributor.authorChacin Torrealba, Marycarmen-
dc.contributor.authorBravo Urquiola, martha-
dc.contributor.authorGomez Ortiz, Gilberto-
dc.contributor.authorMontilla Fonseca, Silvia-
dc.contributor.authorMerzon, Rosa-
dc.contributor.authorDe Donato, Marcos-
dc.contributor.authorCastillo, Omar-
dc.contributor.authorArends, Anabel-
dc.date.accessioned2013-11-05T23:37:31Z-
dc.date.available2013-11-05T23:37:31Z-
dc.date.issued2009-07-13-
dc.identifier.citation1es_VE
dc.identifier.issn1695-4033-
dc.identifier.urihttp://hdl.handle.net/10872/4707-
dc.description.abstractObjectives: Hemoglobinopathies arethemostcommonhereditarydisordersinhumans representing apublichealthprobleminVenezuela.Inthisstudytheprevalenceof hemoglobinopathies wasevaluatedinnewbornsfromdifferentareasofVenezuela,in cooperation withtheneonatalscreeningsystemoftheStudyUnitofInbornErrorsof Metabolism (IDEA). Materials andmethods: The heelbloodsamplesof101,301newbornswereanalysedby high performanceliquidchromatography(HPLC-CE)techniqueusingVariant*BioRad System withtheSickleCellShortprogramforthefilterpapersamplesinandtheBetaTal Short programforthefamilystudies. Results: WefoundahighprevalenceofnewbornsheterozygousforhemoglobinSandC (Hb SandHbC).Itwasobservedthat1.96%(1989)ofthenewbornswerecarriers,withHb FAS(67.92)beingthemostfrequentphenotype,followedbyHbFAC(23.18%),HbFAD (7.49%), HbFSC(0.96%),)andHbFSD(0.20%).Alltheneonatalpositivescaseswere confirmed at3monthsofage. Conclusions: The frequenciesofthevariantsfoundinthisstudyconfirmsthatthe hemoglobin disordersareapublichealthprobleminVenezuela,emphasizingthe importance ofinstitutinganationalprogramofscreeningforhemoglobinopathies throughout thecountry,comprisingnotonlyanearlytreatment,butalsoaneducational program andgeneticcounselingforthefamilygroup. & 2009 Asociaci´onEspan˜oladePediatr´ıa. PublishedbyElsevierEspan˜a,S.L.Allrights reservedes_VE
dc.description.sponsorshipEste trabajofuefinanciadoporelFONACITS1-200200539, G-2005000373, MC2007001066.ECOS-NORDPI2007001066y CODECIH-UC 2005-011.es_VE
dc.language.isoeses_VE
dc.publisherAnales de Pediatriaes_VE
dc.subjectNeonatal screeninges_VE
dc.subjecthemoglobinopathieses_VE
dc.titleDiagnostico de hemoglobinopatıas apartir de sangre del talon de recien nacidoes_VE
dc.title.alternativeDiagnosis ofhemoglobinopathiesinnewbornsinVenezuelahospitalses_VE
dc.typeArticlees_VE
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