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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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