Abstract
Sickle cell disease (SCD) and other hemoglobinopathies are a major health concern with a high burden of disease worldwide. Since the implementation of newborn screening (NBS) for SCD and other hemoglobinopathies in several regions of the world, technical progress of laboratory methods was achieved. This short review aims to summarize the current practice of classical laboratory methods for the detection of SCD and other hemoglobinopathies. This includes the newborn screening technologies of high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), and isoelectric focusing (IEF).
Highlights
Newborn screening (NBS) for sickle cell disease (SCD) as one element of prevention programs for hemoglobinopathies has been in place in several regions in the world for more than 40 years
While laboratories for newborn screening for endocrine and metabolic disorders mainly use tandem mass spectrometry (MS/MS) or photometric assays, technologies, which are commonly established for NBS for hemoglobinopathies include high-performance liquid chromatography (HPLC), isoelectric focusing (IEF), and capillary electrophoresis (CE)
Technologies are based on the separation of hemoglobin species (Hb) and the quantification of respective hemoglobin fractions from dried blood spot (DBS) or fresh cord blood samples
Summary
Newborn screening (NBS) for sickle cell disease (SCD) as one element of prevention programs for hemoglobinopathies has been in place in several regions in the world for more than 40 years now. Patients with thalassemia and other major hemoglobin disorders do not benefit in the same way from early diagnosis These disorders have important implications for family health, and the burden of disease is very high in several regions of the world, demanding preventive action. While laboratories for newborn screening for endocrine and metabolic disorders mainly use tandem mass spectrometry (MS/MS) or photometric assays, technologies, which are commonly established for NBS for hemoglobinopathies include HPLC, isoelectric focusing (IEF), and capillary electrophoresis (CE). They were developed for larger sample sizes from routine hemoglobinopathy testing and permit the clear separation of hemoglobin variants of interest in an automated or semi-automated way. Recent developments of screening methods like tandem mass spectrometry (MS/MS) and Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) or molecular genetic testing are explained elsewhere
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