Work

A novel haemoglobin variant mimicking cyanotic congenital heart disease

Year: 2016

Type: article

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.

Source: BMJ Case Reports

DOI: 10.1136/bcr-2015-213615

Authors: Francisco Abecasis, Inês Marques, Celeste Bento, Anabela Ferrão

Institutions: Hospital de Santa Maria, Unidade Local de Saúde de Coimbra

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2300403191