SpOtOn’s kits enable rapid, cost-effective screening for haemoglobinopathies. These kits, based on a suite of patented intellectual property, provide for a new MSMS-based method, and can be applied to newborn screening, as well as confirmatory testing in ante-natal screening.

The method is based on tryptic digestion of globin proteins and then targeted multiple reaction monitoring (MRM) MSMS analysis of the clinically diagnostic peptides for the sickle cell disease causing mutations, HbS, HbC, HbDPunjab, HbOArab, and HbE. The method also allows detection of b-thalassaemia, measurement of HbF, and detection of HbH disease.

The method is cost-effective, as it avoids the pitfalls of the current HPLC and IEF based methods. By providing peptide sequence/ diagnostic confirmation at the point of screening, it eliminates costly, and disruptive second line confirmation. Furthermore, by allowing the screening laboratory to target the specific haemoglobinopathies to be tested, it gives clinicians better control of their testing strategies, and allows costly follow up of clinically irrelevant haemoglobinopathies to be avoided.

The method is available for validation and adoption in newborn screening and ante-natal confirmation, and is being developed for ante-natal screening.