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Review
. 2018 Dec 5;4(4):39.
doi: 10.3390/ijns4040039. eCollection 2018 Dec.

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

Claudia Frömmel  1   2
Affiliations
Review

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

Claudia Frömmel. Int J Neonatal Screen. .

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.

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Conflict of interest statement

Conflicts of InterestThe author declares no conflicts of interest.

Figures

Figure 1
Figure 1
Chromatogram of HPLC (Variant™ newborn screening (nbs), Bio-Rad laboratories, Europe): the x-axis represents the time in minutes, and the y-axis represents the response in volts; retention times of integrated peaks are shown above the peaks, and peaks of Hb variants included in the pattern are named and indicated with an arrow: (a) pattern of HbF/HbA/HbS (FAS); (b) pattern of HbF/HbS/HbC (FSC).
Figure 2
Figure 2
Pherogram of capillary electrophoresis (CE; Capillarys™ neonat fast, Sebia, France); zone from left to right: N13–N1. Peaks of Hb variants included in the pattern are named: (a) pattern of FAS; (b) pattern of FSC.
Figure 3
Figure 3
Isoelectric focusing gel picture (RESOLVE™, Perkin Elmer, Finland); from left to right: patterns of FAC, FAS, FS, and FA, adopted from Reference [14].
See this image and copyright information in PMC

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