title: A novel haemoglobin variant mimicking cyanotic congenital heart disease.
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.
authors.affiliation: Department of Paediatrics, Paediatric Intensive Care Unit, Hospital Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal.
authors.forename: Francisco
authors.initials: F
authors.lastname: Abecasis
authors.affiliation: Department of Paediatrics, Paediatric Intensive Care Unit, Hospital Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal Department of Paediatrics, Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal.
authors.forename: Inês
authors.initials: I
authors.lastname: Marques
authors.affiliation: Clinical Haematology Service, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Celeste
authors.initials: C
authors.lastname: Bento
authors.affiliation: Department of Paediatrics, Haematology Unit, Hospital Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal.
authors.forename: Anabela
authors.initials: A
authors.lastname: Ferrão
mesh_terms: D003937:Diagnosis, Differential; D014644:Genetic Variation; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D010092:Oximetry / Q000379:methods
chemical_list: D006454:Hemoglobins
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