一种导致脉搏血氧饱和度仪测得的氧饱和度异常降低的血红蛋白变异体：两例报告
A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports.
作者信息
Rua Inês B, Vala Beatriz, Gameiro Inês, Martins João R, Castelo Rui
机构信息
Neonatology Department, Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.
Pediatrics Department, Centro Hospitalar de Leiria, Leiria, PRT.
出版信息
Cureus. 2023 Jul 20;15(7):e42182. doi: 10.7759/cureus.42182. eCollection 2023 Jul.
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.
脉搏血氧饱和度测定目前常用于新生儿复苏及先天性心脏病的新生儿筛查。除了呼吸和心脏疾病外，血红蛋白（Hb）变异体必须纳入通过脉搏血氧饱和度测定检测到的低氧饱和度的鉴别诊断中。我们旨在描述两例胎儿血红蛋白变异体（外显子2中c.202G>A（p.Val68Met）的杂合γ-珠蛋白基因（HBG1）突变）病例，这两例病例在两名无亲缘关系的新生儿中被发现。
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