Newborn screening for hemoglobinopathies using capillary electrophoresis technology: Testing the Capillarys Neonat Fast Hb device

Clinical Biochemistry
E MantikouP C Giordano

Abstract

To diagnose hemoglobinopathies in newborns by separating and measuring the Hb fractions on high throughput capillary electrophoresis. To test and validate the Capillarys Neonat Fast Hb device (Sebia) on fresh and dry blood samples. The Hb fractions in 1.600 cord blood samples from the multi ethnic Dutch population were separated and measured. Further, the sensitivity, specificity and reproducibility of the device in detecting abnormalities and measuring the Hb fractions were estimated. The apparatus separated all significant Hb fractions that should be detected during newborn screening (NBS) with 100% sensitivity. The reproducibility of the migrations guaranteed putative specificity for the few relevant frequent variants observed (HbS, C, and E). The estimation of the HbA and F fractions proved reliable using a well-designed integration mode. Due to the limited number of samples no cases with sickle cell disease or β-thalassemia major were found in this cohort. However, the heterozygous state for the common variants associated with these diseases was clearly recognizable. The measurements were sufficiently precise to recognize sickle cell disease, β-thalassemia major and intermedia and to identify carriers including possible β-...Continue Reading

References

Dec 9, 2008·Pediatric Blood & Cancer·Jennifer MichlitschElliott Vichinsky
Dec 24, 2008·Journal of Clinical Pathology·P C Giordano
Dec 24, 2008·Journal of Clinical Pathology·R DickerhoffE Kohne
Dec 24, 2008·Journal of Clinical Pathology·B GulbisF Vertongen

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Citations

Oct 25, 2012·Journal of Medical Screening·Fleur WolffBéatrice Gulbis
Dec 18, 2012·International Journal of Laboratory Hematology·J O KaufmannP C Giordano
Dec 30, 2020·American Journal of Perinatology·Sana ZitouniHouyem Ouragini

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