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pubmed-article:9005686rdf:typepubmed:Citationlld:pubmed
pubmed-article:9005686lifeskim:mentionsumls-concept:C0027617lld:lifeskim
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pubmed-article:9005686pubmed:issue4-6lld:pubmed
pubmed-article:9005686pubmed:dateCreated1997-1-27lld:pubmed
pubmed-article:9005686pubmed:abstractTextThe primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant hemoglobinopathies and the detection of heterozygous carriers followed by the screening and counselling of family members. We performed a pilot study for the neonatal screening of hemoglobinopathies in 400 samples of cord blood taken from a maternity in Lisbon. We did not find any newborn with sickle cell disease. Six samples were from sickle cell heterozygotes, the respective families were studied and informed. We looked for the presence of alpha-thalassemia at birth in 100 consecutive samples of cord blood, by the presence of Hb Bart's, abnormal red blood cell indices and alpha-globin genotype. The results show an incidence of 10% of alpha-thalassemia (-alpha) carriers and 4% of triple alpha-globin gene carriers. The authors discuss the feasibility of neonatal screening of hemoglobinopathies in a Portuguese-speaking population consisting of a low prevalence of Hb S trait autoclonous group and a high prevalence immigrant minority.lld:pubmed
pubmed-article:9005686pubmed:languageporlld:pubmed
pubmed-article:9005686pubmed:journalhttp://linkedlifedata.com/r...lld:pubmed
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pubmed-article:9005686pubmed:statusMEDLINElld:pubmed
pubmed-article:9005686pubmed:issn0870-399Xlld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:MachadoM CMClld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:LavinhaJJlld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:MartinsM CMClld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:SeixasTTlld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:CarreiroM HMHlld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:PicançoIIlld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:PerezM AMAlld:pubmed
pubmed-article:9005686pubmed:authorpubmed-author:BatalhaLLlld:pubmed
pubmed-article:9005686pubmed:issnTypePrintlld:pubmed
pubmed-article:9005686pubmed:volume9lld:pubmed
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pubmed-article:9005686pubmed:pagination135-9lld:pubmed
pubmed-article:9005686pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:9005686pubmed:articleTitle[Neonatal screening of hemoglobinopathies in a population residing in Portugal].lld:pubmed
pubmed-article:9005686pubmed:affiliationDepartamento de Genética e Biologia Médica, Instituto Nacìonal de Saúde Dr Ricardo Jorge, Alfredo da Costa, Lisboa.lld:pubmed
pubmed-article:9005686pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:9005686pubmed:publicationTypeEnglish Abstractlld:pubmed