CASE REPORT article
Front. Cardiovasc. Med.
Sec. Pediatric Cardiology
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1537704
Hemoglobin Titusville: A specific case of cyanosis
Provisionally accepted
- Shanghai Children's Medical Center, Shanghai, China
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Hemoglobin Titusville is a rare low-oxygen-affinity hemoglobinopathy characterized by normal arterial partial pressure of oxygen but low oxygen saturation.In this study, we describe a case of hemoglobinopathy presenting as cyanosis. A 12year-old female patient was admitted to the hospital with cyanosis and 87% blood oxygen saturation. Overall, the patient was healthy and exhibited good exercise endurance. Upon admission, her arterial partial pressure of oxygen was 121 mmHg, and her blood oxygen saturation was 89.7%. First, the common causes were excluded, after which cardiovascular catheterization was performed. This detected no shunt between the systemic and pulmonary circulation. Finally, whole-exon sequencing confirmed a heterozygous mutation of the HBA1 gene (g.227115G > A). In this study, we review the entire course of this case, providing scientific insight into this disease and a differential diagnosis of cyanosis.
Keywords: hemoglobinopathy, Hemoglobin Titusville, hypoxemia, Cyanosis, Cardiac Catheterization
Received: 01 Dec 2024; Accepted: 28 May 2025.
Copyright: © 2025 Zhang, Wang, Ji, Xu, Guo and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ting Liang Liu, Shanghai Children's Medical Center, Shanghai, China
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