Newborn screening for hemoglobinopathies using capillary electrophoresis.

Methods Mol Biol

Human and Clinical Genetics Department, Leiden University Medical Center, Leiden, The Netherlands.

Published: January 2013

This chapter reports the essential elements needed to understand basic laboratory diagnostics consisting of separation and measurement of the hemoglobin fractions. Although well established, basic diagnostics require some background and some degree of experience for application and interpretation. Last generation methods, consisting of automatic systems like high performance liquid chromatography and capillary electrophoresis (CE), allow high through put analysis in adults and newborns. Newborn screening using CE is presented in some details, using as an example the Capillarysâ Neonat Hb system (Sebia, France), as an upcoming alternative, explaining the method, the interpretation of the results, the objectives, the follow up, the advantages, and the pitfalls.

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-62703-029-8_13DOI Listing

Publication Analysis

Top Keywords

newborn screening
8
capillary electrophoresis
8
screening hemoglobinopathies
4
hemoglobinopathies capillary
4
electrophoresis chapter
4
chapter reports
4
reports essential
4
essential elements
4
elements needed
4
needed understand
4

Similar Publications

Background: The World Health Organisation (WHO) developed a comprehensive framework encouraging an integrated approach to achieve triple elimination of vertical transmission of HIV, syphilis, and hepatitis B in Asia. Current screening practices in Nepal show significantly lower coverage for syphilis and hepatitis B compared to HIV suggesting potential for integration. In this study, we aimed to model the cost-effectiveness of triple screening during antenatal care in Nepal.

View Article and Find Full Text PDF

Long QT Syndrome (LQTS) is a rare hereditary canalopathy, characterized by prolonged ventricular repolarization, which can lead to malignant tachyarrhythmias at a young age. Treatment typically involves healthy lifestyle changes and β-blocker therapy. In specific cases, the implantation of an implantable cardioverter defibrillator (ICD) can be an option.

View Article and Find Full Text PDF

Background: The Indian government is committed to addressing various manifestations of malnutrition, including overweight and obesity, inorder to improve individual health and well-being. The scoping review aims to map existing national policy instruments (programmes, schemes, regulations and guidelines) addressing overweight and obesity in India and analysing them for Social and Behaviour Change Communication (SBCC) strategies.

Methods: Systematic identification and selection of policy instruments using 'Arksey and O'Malley' framework was conducted from central government ministry websites, between March and June 2023.

View Article and Find Full Text PDF

Purpose: Retinopathy of prematurity (ROP) stage is defined by the visual appearance of the vascular-avascular border, which reflects a spectrum of pathologic neurovascular tissue (NVT). Previous work demonstrated that the thickness of the ridge lesion, measured using OCT, corresponds to higher clinical diagnosis of stage. This study evaluates whether the volume of anomalous NVT (ANVTV), defined as abnormal tissue protruding from the regular contour of the retina, can be measured automatically using deep learning to develop quantitative OCT-based biomarkers in ROP.

View Article and Find Full Text PDF

Introduction: Sexually transmitted infections (STIs) in pregnancy are associated with an increased risk of vertical HIV transmission and adverse pregnancy and birth outcomes. In South Africa, syndromic management is the standard of care for STI management. We assessed the potential impact of point-of-care (POC) screening for curable STIs (Chlamydia trachomatis [CT], Trichomonas vaginalis [TV] and Neisseria gonorrhoeae [NG]) during pregnancy on vertical HIV transmission and adverse pregnancy and birth outcomes.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!