A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform

A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform

The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach...

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Bibliographic Details
Main Authors: Pierre Naubourg, Marven El Osta, David Rageot, Olivier Grunewald, Gilles Renom, Patrick Ducoroy, Jean-Marc Périni
Format: Article
Language:English
Published: MDPI AG 2019-01-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
sickle cell disease
MALDI-TOF
mass spectrometry
thalassemia
prevention
Online Access:https://www.mdpi.com/2409-515X/5/1/10

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