Abbreviations ceHPLC cation exchange HPLC DBS dried blood spot Hb hemoglobin HbF fetal Hb LESA liquid extraction surface analysis NHS National Health Service (UK) SCD sickle cell disease 1 Introduction Annually, the UK newborn screening program screens ∼700 000 neonates for five genetic disorders phenylketonuria, congenital hypothyroidism, cystic fibrosis, medium chain acyl-CoA dehydrogenase deficiency, and sickle cell disease (SCD). Direct surface sampling MS should be considered as an alternative to current screening techniques for the diagnosis of Hb variants. Manual analysis of the mass spectra revealed that, in all cases, the variants may be confirmed. ![]() ![]() The samples had been previously screened and were known to be FAE, FSC, FSD, or β-thalassemia. Anonymized residual neonatal dried blood spot samples, taken as part of the routine newborn screening program, were analyzed by liquid extraction surface analysis coupled to high resolution MS/MS.
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