Saber UCV
Repositorio Institucional
Repositorio Institucional
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https://saber.ucv.ve/handle/10872/4707
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| Title: | Diagnostico de hemoglobinopatıas apartir de sangre del talon de recien nacido |
| Other Titles: | Diagnosis ofhemoglobinopathiesinnewbornsinVenezuelahospitals |
| Authors: | Garcia Gimenez, Odalis Chacin Torrealba, Marycarmen Bravo Urquiola, martha Gomez Ortiz, Gilberto Montilla Fonseca, Silvia Merzon, Rosa De Donato, Marcos Castillo, Omar Arends, Anabel |
| Keywords: | Neonatal screening hemoglobinopathies |
| Issue Date: | 13-Jul-2009 |
| Publisher: | Anales de Pediatria |
| Citation: | 1 |
| Abstract: | Objectives: 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 reserved |
| URI: | http://hdl.handle.net/10872/4707 |
| ISSN: | 1695-4033 |
| Appears in Collections: | Artículos Publicados |
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