A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports. 2023

Inês B Rua, and Beatriz Vala, and Inês Gameiro, and João R Martins, and Rui Castelo
Neonatology Department, Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.

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.

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