Decreased oxygen saturation as a result of haemoglobin Titusville

Abstract

After extensive investigations, a rare haemoglobin variant, haemoglobin Titusville, with decreased oxygen binding capacity was discovered. This is the first haemoglobin Titusville case reported in Scandinavian countries.

First family case of haemoglobinopathy Titusville in France and literature overview

“…Although PaO 2 of oxygen in arterial blood was normal, oxygen saturation measured with pulse oximetry was markedly decreased, his SpO 2 was 77%. After multiples investigations, he was known to carry a Titusville Hb 6. Shortly after delivery, a term female infant with cyanosis was found to be not anaemic and to have oxygen saturation and a PaO 2 of oxygen in arterial blood of 88%, haemoglobin analysis confirmed haemoglobin Titusville for her and her baby 7.…”

Haemoglobin Titusville: A case study and review of the literature

“…There have been 17 cases of haemoglobin Titusville reported in the literature, arising from 11 families (including this case) . Eleven females and five males have been identified, with one gender unspecified . There does not appear to be one predominant ethnic background, with cases reported from multiple different backgrounds, including African‐American, Hispanic, Israeli and Russian families, amongst others .…”

“…There have been 17 cases of haemoglobin Titusville reported in the literature, arising from 11 families (including this case) . Eleven females and five males have been identified, with one gender unspecified .…”

“…The first‐ever patient described in the literature was a 3‐year‐old, otherwise healthy, African‐American female . Since 1975, there have been other reported cases in the literature . Haemoglobin Titusville is a low‐oxygen affinity haemoglobinopathy involving a single nucleotide change from G to A at codon 94 of the alpha globin gene .…”

“…Eleven females and five males have been identified, with one gender unspecified . There does not appear to be one predominant ethnic background, with cases reported from multiple different backgrounds, including African‐American, Hispanic, Israeli and Russian families, amongst others . When a haemoglobin has been reported, it is either normal or slightly low .…”