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A novel haemoglobin variant mimicking cyanotic congenital heart disease
  1. Francisco Abecasis1,
  2. Inês Marques1,2,
  3. Celeste Bento3,
  4. Anabela Ferrão4
  1. 1Department of Paediatrics, Paediatric Intensive Care Unit, Hospital Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal
  2. 2Department of Paediatrics, Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal
  3. 3Clinical Haematology Service, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
  4. 4Department of Paediatrics, Haematology Unit, Hospital Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal
  1. Correspondence to Dr Inês Marques, inesmped{at}


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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