A novel haemoglobin variant mimicking cyanotic congenital heart disease

Detalhes bibliográficos
Autor(a) principal: Abecasis, F
Data de Publicação: 2016
Outros Autores: Marques, I, Bento, C, Ferrão, A
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/2221
Resumo: Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive results. In order to avoid multiple investigations and uncertainty, an haemoglobin (Hb) variant must be included in the differential diagnosis in otherwise well newborns with low oxygen saturation by pulse oximetry. We describe a novel fetal Hb variant (heterozygous γ-globin gene (HBG1) mutation in exon 2 c.202G>A (p.Val68Met)) identified in a newborn with positive pulse oximetry screening for congenital heart disease.
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spelling A novel haemoglobin variant mimicking cyanotic congenital heart diseaseDeficiências Cardíacas Congénitas/diagnósticoDeficiências Cardíacas Congénitas/genéticaRastreio NeonatalHemoglobinasScreening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive results. In order to avoid multiple investigations and uncertainty, an haemoglobin (Hb) variant must be included in the differential diagnosis in otherwise well newborns with low oxygen saturation by pulse oximetry. We describe a novel fetal Hb variant (heterozygous γ-globin gene (HBG1) mutation in exon 2 c.202G>A (p.Val68Met)) identified in a newborn with positive pulse oximetry screening for congenital heart disease.RIHUCAbecasis, FMarques, IBento, CFerrão, A2019-05-22T16:01:37Z2016-01-282016-01-28T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/2221engBMJ Case Rep. 2016 Jan 28;2016. pii: bcr2015213615. d10.1136/bcr-2015-213615info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:23:36ZPortal AgregadorONG
dc.title.none.fl_str_mv A novel haemoglobin variant mimicking cyanotic congenital heart disease
title A novel haemoglobin variant mimicking cyanotic congenital heart disease
spellingShingle A novel haemoglobin variant mimicking cyanotic congenital heart disease
Abecasis, F
Deficiências Cardíacas Congénitas/diagnóstico
Deficiências Cardíacas Congénitas/genética
Rastreio Neonatal
Hemoglobinas
title_short A novel haemoglobin variant mimicking cyanotic congenital heart disease
title_full A novel haemoglobin variant mimicking cyanotic congenital heart disease
title_fullStr A novel haemoglobin variant mimicking cyanotic congenital heart disease
title_full_unstemmed A novel haemoglobin variant mimicking cyanotic congenital heart disease
title_sort A novel haemoglobin variant mimicking cyanotic congenital heart disease
author Abecasis, F
author_facet Abecasis, F
Marques, I
Bento, C
Ferrão, A
author_role author
author2 Marques, I
Bento, C
Ferrão, A
author2_role author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Abecasis, F
Marques, I
Bento, C
Ferrão, A
dc.subject.por.fl_str_mv Deficiências Cardíacas Congénitas/diagnóstico
Deficiências Cardíacas Congénitas/genética
Rastreio Neonatal
Hemoglobinas
topic Deficiências Cardíacas Congénitas/diagnóstico
Deficiências Cardíacas Congénitas/genética
Rastreio Neonatal
Hemoglobinas
description Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive results. In order to avoid multiple investigations and uncertainty, an haemoglobin (Hb) variant must be included in the differential diagnosis in otherwise well newborns with low oxygen saturation by pulse oximetry. We describe a novel fetal Hb variant (heterozygous γ-globin gene (HBG1) mutation in exon 2 c.202G>A (p.Val68Met)) identified in a newborn with positive pulse oximetry screening for congenital heart disease.
publishDate 2016
dc.date.none.fl_str_mv 2016-01-28
2016-01-28T00:00:00Z
2019-05-22T16:01:37Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.4/2221
url http://hdl.handle.net/10400.4/2221
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv BMJ Case Rep. 2016 Jan 28;2016. pii: bcr2015213615. d
10.1136/bcr-2015-213615
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv
repository.mail.fl_str_mv
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