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First family case of haemoglobinopathy Titusville in France and literature overview
  1. Caroline Ruetsch1,2,3,
  2. Juliette Raffort1,2,3,
  3. Patricia Panaia-Ferrari1,
  4. Célia Deconde1,2,
  5. Celine Caruba-Bafghi1,
  6. Mourad Naimi1,3,
  7. Juliette Kavafyan4,
  8. Laurent Suissa5,
  9. Guilia Chinetti1,3
  1. 1 Clinical Chemistry Laboratory, University Hospital of Nice, Nice, France
  2. 2 Medical School, University of Côte d’Azur, Nice, France
  3. 3 CHU, Inserm, University of Côte d’Azur, Nice, France
  4. 4 Intensive care unit, Beaujon Hospital, Clichy, France
  5. 5 Stroke Unit, University Hospital of Nice, Nice, France
  1. Correspondence to Caroline Ruetsch, Clinical Haematology Laboratory, CHU Hôpital Pasteur, Nice 06000, France; ruetsch.c{at}chu-nice.fr

Abstract

Normal haemoglobin is a tetramer molecule, consisting of two α and β haemoglobin chains. Haemoglobinopathies occur when abnormalities in these proteins are present. More than 1000 naturally occurring human haemoglobin variants with single amino acid substitution throughout the molecule have been identified and can be discovered through their clinical and biological manifestations. Here, we report the case of a 60-year-old woman for whom no oximetry results were obtained during blood gas analysis (BGA) and the values of oxygen saturation obtained from pulse oximetry (73%) and co-oximetry (90%) differed. Haemoglobin analysis demonstrated the presence of a variant in the alpha chain. Clinical history of the patient and her family revealed they carry a haemoglobin variant (Titusville type), thus representing the first French family case reported. Those results raised the question whether the presence of this variant could be the cause of the errors encountered during BGA.

  • haemoglobin titusville
  • haemoglobin variant
  • oxygen affinity
  • blood gas analysis
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Footnotes

  • Handling editor Mary Frances McMullin.

  • Contributors CR, PP-F, GC researched literature and conceived the study. CC-B and MN were involved in protocol development, gaining ethical approval, patient recruitment and data analysis. CR and CD wrote the first draft of the manuscript. CC-B took care of the validation of the biological analyses. LS gave us all the clinical data of the patient. All authors reviewed and edited the manuscript and approved the final version of the manuscript.

  • Funding This study was supported by the University Côte d’Azur and the University Hospital of Nice.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement All data published in this article can be shared.

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