Heidenreich Leah S, Oliveira Jennifer L, Holmberg Peter J, Rodriguez Vilmarie
Mayo Clinic Children's Center, Mayo Clinic, Rochester, Minnesota, USA.
Division of Hematopathology, Mayo Clinic, Rochester, Minnesota, USA.
Case Rep Pediatr. 2020 Feb 10;2020:2853531. doi: 10.1155/2020/2853531. eCollection 2020.
Pulse oximetry is routinely used in the newborn nursery for clinical monitoring and to detect critical congenital heart disease. The differential diagnoses for reduced peripheral oxygen saturation in an infant include congenital heart disease, respiratory distress syndrome, transient tachypnea of the newborn, persistent pulmonary hypertension of the newborn, meconium aspiration syndrome, pneumonia, pneumothorax, and sepsis. The diagnostic evaluation for neonatal hypoxemia can be invasive and expensive. When this evaluation is unrevealing, other interventions may be tried without clear benefit to the patient, including, but not limited to, supplemental oxygen. Therefore, it is important to consider alternative, albeit rare, diagnoses, including hemoglobinopathies with abnormal oxygen binding properties. Mutations in the structure of alpha- and beta-globin chains can alter the affinity of hemoglobin for oxygen, and changes in oxygen affinity may result in changes in the oxygen saturation detected by pulse oximetry. These changes may or may not be of clinical significance. This case report describes Hemoglobin Sunshine Seth, a rare low-oxygen-affinity hemoglobin variant presenting as reduced peripheral oxygen saturation in an otherwise well-appearing infant male.
脉搏血氧饱和度测定法在新生儿重症监护室中常用于临床监测及检测严重先天性心脏病。婴儿外周血氧饱和度降低的鉴别诊断包括先天性心脏病、呼吸窘迫综合征、新生儿短暂性呼吸急促、新生儿持续性肺动脉高压、胎粪吸入综合征、肺炎、气胸和败血症。新生儿低氧血症的诊断评估可能具有侵入性且费用高昂。当该评估未发现问题时，可能会尝试其他干预措施，但对患者并无明显益处，包括但不限于补充氧气。因此，考虑其他虽罕见但可能的诊断很重要，包括具有异常氧结合特性的血红蛋白病。α和β珠蛋白链结构的突变可改变血红蛋白对氧气的亲和力，而氧亲和力的变化可能导致脉搏血氧饱和度测定法检测到的氧饱和度发生变化。这些变化可能具有临床意义，也可能没有。本病例报告描述了血红蛋白阳光赛斯，这是一种罕见的低氧亲和力血红蛋白变异体，表现为外表健康的男婴外周血氧饱和度降低。
