Protein characterization by LC-MS/MS may be required for the DNA identification of a fusion hemoglobin: the example of Hb P-Nilotic.

@article{ZanellaClon2012ProteinCB,
  title={Protein characterization by LC-MS/MS may be required for the DNA identification of a fusion hemoglobin: the example of Hb P-Nilotic.},
  author={Isabelle Zanella-Cl{\'e}on and Fr{\'e}d{\'e}ric Delolme and Philippe Lacan and Caroline E Garcia and Isabelle Vinatier and Alain Francina and Philippe Joly},
  journal={Journal of chromatography. B, Analytical technologies in the biomedical and life sciences},
  year={2012},
  volume={883-884},
  pages={172-6}
}
DNA analysis is currently the easiest way to identify a hemoglobin variant in most cases. Nevertheless, in case of complex gene rearrangements, mass spectrometry studies may be required to orientate the DNA diagnosis. The present report shows the use of mass spectrometry techniques prior to DNA analysis for the identification of the rare P-Nilotic fusion… CONTINUE READING