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...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-06-01
|
| Series: | Frontiers in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1537704/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850219913502785536 |
|---|---|
| author | Meng Zhang Kai Wang Xinyi Xu Wei Ji Ying Guo Wei Gao Tingliang Liu |
| author_facet | Meng Zhang Kai Wang Xinyi Xu Wei Ji Ying Guo Wei Gao Tingliang Liu |
| author_sort | Meng Zhang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-cf125f3657744a23a50c108dc6ea9e9e |
| institution | OA Journals |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-cf125f3657744a23a50c108dc6ea9e9e2025-08-20T02:07:13ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-06-011210.3389/fcvm.2025.15377041537704Case Report: Hemoglobin titusville: a specific case of cyanosisMeng ZhangKai WangXinyi XuWei JiYing GuoWei GaoTingliang LiuHemoglobin 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.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1537704/fullhemoglobinopathyhemoglobin titusvillehypoxemiacyanosiscardiac catheterization |
| spellingShingle | Meng Zhang Kai Wang Xinyi Xu Wei Ji Ying Guo Wei Gao Tingliang Liu Case Report: Hemoglobin titusville: a specific case of cyanosis Frontiers in Cardiovascular Medicine hemoglobinopathy hemoglobin titusville hypoxemia cyanosis cardiac catheterization |
| title | Case Report: Hemoglobin titusville: a specific case of cyanosis |
| title_full | Case Report: Hemoglobin titusville: a specific case of cyanosis |
| title_fullStr | Case Report: Hemoglobin titusville: a specific case of cyanosis |
| title_full_unstemmed | Case Report: Hemoglobin titusville: a specific case of cyanosis |
| title_short | Case Report: Hemoglobin titusville: a specific case of cyanosis |
| title_sort | case report hemoglobin titusville a specific case of cyanosis |
| topic | hemoglobinopathy hemoglobin titusville hypoxemia cyanosis cardiac catheterization |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1537704/full |
| work_keys_str_mv | AT mengzhang casereporthemoglobintitusvilleaspecificcaseofcyanosis AT kaiwang casereporthemoglobintitusvilleaspecificcaseofcyanosis AT xinyixu casereporthemoglobintitusvilleaspecificcaseofcyanosis AT weiji casereporthemoglobintitusvilleaspecificcaseofcyanosis AT yingguo casereporthemoglobintitusvilleaspecificcaseofcyanosis AT weigao casereporthemoglobintitusvilleaspecificcaseofcyanosis AT tingliangliu casereporthemoglobintitusvilleaspecificcaseofcyanosis |