Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods-Isoelectric Focusing, HPLC, and Capillary Electrophoresis

Claudia Frömmel

doi:10.3390/ijns4040039

Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods-Isoelectric Focusing, HPLC, and Capillary Electrophoresis

Int J Neonatal Screen. 2018 Dec 5;4(4):39. doi: 10.3390/ijns4040039. eCollection 2018 Dec.

Author

Claudia Frömmel^{1

2}

Affiliations

¹ MVZ Alexianer Labor GmbH, Groβe Hamburger Str. 5-11, 10115 Berlin, Germany; c.froemmel@alexianer.de; Tel.: +49-30-2311-2820.
² Newborn Screening Laboratory, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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).

Keywords: HPLC; IEF; capillary electrophoresis; hemoglobin pattern; hemoglobinopathy; laboratory methods; neonatal screening; newborn screening; sickle cell disease.

Publication types

Review