Jordyn A. Moore¹ and Richard I. King¹
Specialist Biochemistry, Canterbury Health Laboratories, Health NZ

Time-of-flight (TOF) mass spectrometry can complement other investigations for screening and diagnosis of haemoglobinopathies and thalassaemia. The well resolved globin masses detected provide different information to routine screening methods, such as cation exchange HPLC and capillary electrophoresis, which are predominantly based on charge separation of globin tetramers. TOF mass spectrometry provides structural detail for intact globin chains (alpha, beta, delta, gamma) that comprise the globin tetramers, as well as relative expression levels. This enables diagnosis of more complex cases and where necessary, better informs additional testing including peptide mapping or genetic analysis. As these disorders can involve point mutation and/or deletion of both the alpha globin (HBA1 and HBA2) and beta globin (HBB, HBD, HBG1 and HBG2) gene clusters, interpreting screening results can be complicated and TOF mass spectrometry can simplify this. We present two interesting cases that illustrate the utility of TOF mass spectrometry in the haemoglobinopathy and thalassaemia laboratory workflow.

Jordyn is the Scientific Officer in charge of TOF mass spectrometry for haemoglobinopathy and thalassaemia cases. Jordyn routinely performs, interprets, reports and authorises this testing. Jordyn will collate the case information and assemble the poster. Richard is the Pathologist in charge of TOF mass spectrometry for haemoglobinopathy and thalassaemia cases. Richard routinely authorises this testing. Richard has reviewed the abstract and will review the poster.