Publication
A novel haemoglobin variant mimicking cyanotic congenital heart disease
| dc.contributor.author | Abecasis, F | |
| dc.contributor.author | Marques, I | |
| dc.contributor.author | Bento, C | |
| dc.contributor.author | Ferrão, A | |
| dc.date.accessioned | 2019-05-22T16:01:37Z | |
| dc.date.available | 2019-05-22T16:01:37Z | |
| dc.date.issued | 2016-01-28 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | BMJ Case Rep. 2016 Jan 28;2016. pii: bcr2015213615. d | pt_PT |
| dc.identifier.doi | 10.1136/bcr-2015-213615 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.4/2221 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Deficiências Cardíacas Congénitas/diagnóstico | pt_PT |
| dc.subject | Deficiências Cardíacas Congénitas/genética | pt_PT |
| dc.subject | Rastreio Neonatal | pt_PT |
| dc.subject | Hemoglobinas | pt_PT |
| dc.title | A novel haemoglobin variant mimicking cyanotic congenital heart disease | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | bcr2015213615 | pt_PT |
| oaire.citation.volume | 2016 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
Files
Original bundle
1 - 1 of 1
Loading...
- Name:
- A novel haemoglobin variant mimicking cyanotic.pdf
- Size:
- 276.87 KB
- Format:
- Adobe Portable Document Format
License bundle
1 - 1 of 1
No Thumbnail Available
- Name:
- license.txt
- Size:
- 1.71 KB
- Format:
- Item-specific license agreed upon to submission
- Description: