A long-lasting low oxygen saturation hiding Titusville Hemoglobin diagnosis in a premature 14-month-old child – Case Report

Abstract

Background: There are some clinical conditions that can impact the accuracy of spO2 measurements, leading to an incorrect diagnosis of hypoxemia. Low oxygen affinity hemoglobinopathy can present with low spO2 and discordance with PaO2 and and general clinical conditions Case Presentation: We report the case of a 14-month-old male, born extremely premature, suffering from severe BPD requiring continuous high-flow nasal cannula (HFNC) oxygen therapy, who was hospitalized due to a viral respiratory infection with dyspnea and desaturation. When the child clinically recovered, all attemps of weaning off oxygen led to rapid drops in spO2, despite the lack of increased work of breathing or cyanosis and normal PaO2. Conclusions: Severe BPD and recurrent respiratory issues could have per se justified the persistently low spO2. Incongruence between low spO2 values, normal PaO2 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.