High throughput Newborn Screening for Hemoglobinopathies by LCMS-8045 with ZenTech Targeted MS/MS Hemo device

User Benefits

- End-to-end solution provided by Shimadzu and ZenTech - High throughput, sensitive & robust methodology for hemoglobinopathies using Newborn’s dried blood spots (DBS) - Analysed in MRM-mode targeting the unique peptides of hemoglobin variants.

Introduction

Hemoglobin Hemoglobin (Hb) is a tetramer composed of two α- globin and two non-α-globin chains working in conjunction with heme to transport oxygen in the blood. Normal adult hemoglobin (HbA) is designated αA2βA. Hemoglobin Variant is derived from gene abnormalities affecting the α-globin genes (HBA1 or HBA2) or β-globin (HBB) structural genes (exons). More than a thousand hemoglobin variants have been identified relative to changes in the globin chains. Qualitative changes correspond to amino acid substitutions resulting in hemoglobinopathies. - Hemoglobinopathies Hemoglobinopathies are genetic defects that result in one of the chains of the hemoglobin molecule. These are usually single-gene disorders, such as sickle cell disease, and they are usually inherited as autosomal codominant traits. To date, over 1000 hemoglobinopathies have been found but fortunately, only a few have clinical significance. Although there is a formal system for naming hemoglobinopathies, most hemoglobinopathies are known by a letter or identifier from the location where the hemoglobin variant was found or a combination of these. It is important to be able to structurally identify and quantitate these variants in order to detect abnormal hemoglobin quickly and precisely. The conventional technologies have reported false (positive/negative) results as they are very sensitive to pH and a minute deviation impact the results. This application highlights high throughput, sensitive and reproducible testing method with Newborn’s DBS for hemoglobinopathies using Shimadzu LCMS-8045 with Targeted MS/MS Hemo device (ZenTech s.a., Avenue du Pré-Aily 10, 4031 Angleur, Belgium). Liquid chromatography mass spectrometer (LC-MS/MS) methods with high throughput, high sensitivity and specificity have been developed for analysis of Hb variants. The application is capable of analysing α-thalassemia, β- thalassemia and Hb variants like HbS, HbC, HbE, HbO^Arab , HbD^Punjab having fast turnaround time required for large numbers of samples. The techniques have produced accurate analysis that would have been missed by the traditional methods.

July 6, 2023 GMT