Hemoglobinopathy as a Rare Differential Disease for Low Oxygen Saturation by Pulse Oximetry: A Case Report and Literature Review

• Published in: Internal Medicine p. 4011-24
• Main Authors: Takeda, Kenichiro, Sugiura, Toshihiko, Isomatsu, Satoshi, Ogawa, Hidemi, Murai, Yushi, Miyata, Shizu, Imai, Shun, Okaya, Tadasu, Naito, Akira, Sekine, Ayumi, Shigeta, Ayako, Suzuki, Takuji
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 2024
• Subjects: Dyspnea; Hemoglobin Hirosaki; Pulse Oximetry; Unstable hemoglobin; Pulse Oximetry; Unstable hemoglobin; Dyspnea; Hemoglobin Hirosaki
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.4011-24

Pulse oximetry is used to screen for respiratory failure in dyspnea patients. However, pulse oximetry can yield false-positive results in certain situations. Unstable hemoglobinopathy is a disease in which mutations in the globin-encoding gene result in abnormal globin chain production, causing low percutaneous oxygen saturation (SpO2) levels due to changes in hemoglobin absorbance and oxygen affinity. We identified a new family lineage of Hb Hirosaki in an adult patient with chronic obstructive pulmonary disease, dyspnea, and low SpO2. According to our literature review, only a few cases of unstable hemoglobinopathy have been reported in adults. Most patients with unstable hemoglobinopathy are asymptomatic, and those with dyspnea often have respiratory diseases or severe anemia. To differentiate unstable hemoglobinopathy, an appropriate assessment of the discrepancy between SpO2 values and arterial blood gas analysis results is important.