Case Report: Hemoglobin titusville: a specific case of cyanosis
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 12-year-old female patient was admitted to the hospital with cya...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1537704/full |
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| Summary: | 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 12-year-old female patient was admitted to the hospital with cyanosis and 87% blood oxygen saturation. Overall, the patient was healthy and preserved exercise tolerance. 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. |
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| ISSN: | 2297-055X |