A long-lasting low oxygen saturation hiding Titusville hemoglobin diagnosis in a premature 14-month-old child – case report
Severe BPD and recurrent respiratory issues could have per se justified the persistently low spO2. Incongruence between low spO<sub>2</sub> values, normal PaO<sub>2</sub> levels and good clinical condition, once the child was recovered, raised suspicion of low oxygen affinity hemoglobin (Hb) variants. Abnormal Hb peak detected through high-performance liquid chromatography allowed rare diagnosis of Hb Titusville, confirmed by molecular analysis. In conclusion, the case matched a rare low oxygen affinity hemoglobinopathy (Hb Titusville), highlighting its relevance in unexplained hypoxemia. Diagnosis challenges necessitate a systematic approach to prevent misinterpretations.
Authors
- Marta Piotto
- Mara Lelii (ORCID: https://orcid.org/0000-0003-1337-6165)
- Alessia Rocchi
- Maria Francesca Patria (ORCID: https://orcid.org/0000-0002-1716-1738)
- Cristina Curcio (ORCID: https://orcid.org/0009-0000-2352-0357)
- Barbara Madini
- Youssra Belhaj
- Silvana Gangi
Institutions
- University of Milan (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-03-23
- DOI
- https://doi.org/10.1186/s13052-025-01900-4
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00