Haemoglobin Mass Spectrometry: Peptide mapping

Diagnostic Use

Haemoglobin (Hb) mass spectrometry is useful in the diagnosis of Hb variants and thalassaemia. This testing may be indicated following the results of routine haemoglobinopathy screening, if an unknown Hb variant or thalassaemia was detected. Hb analysis using electrophoretic and chromatographic procedures, such as Hb A1c testing, will often detect Hb variants of uncertain significance. In addition, high oxygen affinity Hb variants are a known cause of polycythaemia and their exclusion forms part of the standard diagnostic work up in cases of unexplained polycythaemia. Liquid chromatography coupled with electrospray ionisation (ESI) mass spectrometry is the method of choice for identifying Hb variants and thalassaemia in these patients.


Genetics - Molecular Pathology

Delphic Registration Code


Turnaround Time

4 weeks