A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports

Inês B Rua; Beatriz Vala; Inês Gameiro; João R Martins; Rui Castelo

doi:10.7759/cureus.42182

A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports

Cureus. 2023 Jul 20;15(7):e42182. doi: 10.7759/cureus.42182. eCollection 2023 Jul.

Authors

Inês B Rua¹, Beatriz Vala², Inês Gameiro¹, João R Martins¹, Rui Castelo¹

Affiliations

¹ Neonatology Department, Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.
² Pediatrics Department, Centro Hospitalar de Leiria, Leiria, PRT.

Abstract

Pulse oximetry is now routinely used in neonatal resuscitation and for neonatal screening for congenital heart diseases. Beyond respiratory and cardiac diseases, hemoglobin (Hb) variants must be included in the differential diagnosis of low oxygen saturation detected by pulse oximetry. We aim to describe two cases of fetal Hb variant (heterozygous γ-globin gene (HBG1) mutation in exon 2 c.202G>A (p.Val68Met)), which was identified in two unrelated newborns.

Keywords: hematology; hemoglobinopathies; neonatology; oxygen saturation; pulse oximetry.

Publication types

Case Reports