Targeted MS/MS Hemo (Hemoglobinopathies)
Qualitative MS/MS assay for newborn hemoglobinopathy screening from DBS.

The Targeted MS/MS Hemo kit is a qualitative analytical test for newborn screening for hemoglobin (Hb)-related conditions such as sickle cell disease. This test is based on the detection by mass spectrometry of peptides generated during the digestion of normal Hb and/or variants (HbA, HbA2, HbC, HbDPunjab/Los Angeles, HbE, HbF, HbOArab and HbS) of the patient.

This assay is dedicated to professional use in diagnostic laboratories. The device is not for self-testing.

Regulatory Status: CE-IVD

Format: 96 / 480 determinations

Targets: 12 haemoglobin peptides (α, β, βS, βC, βE, βOArab, βDPunjab, γ, δ)

Method: tandem mass spectrometry (MS/MS)

Sample: DBS (903®/226 paper) - 3.2 mm punch

Storage: -20°C (controls, enzyme) / 2-8°C (other reagents)

General information

Advantages

Allow differentiation between healthy carriers and pathological phenotypes

Several pathologies detected in one well

Compatible with various triple quadrupole Mass Spectrometers

Include easy-to-use software for data analysis

Haemoglobin is extracted and denatured directly from the dried blood spot, then digested by trypsin into characteristic peptides. The digest is analysed by tandem mass spectrometry on a triple-quadrupole system operating in Multiple Reaction Monitoring (MRM) mode: for each of the twelve targeted peptides, two specific parent-ion/product-ion transitions are monitored.

The Targeted MS/MS Hemo Software computes peptide-signal ratios from the exported data and applies two independent tree-like algorithms, returning a separate status for the α- and β-globin chains to guide screening.

Test principle

Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening: https://pmc.ncbi.nlm.nih.gov/articles/PMC11676960/

High Throughput Testing Method with Newborn’s DBS for Hemoglobinopathies by LCMS-8045 with ZenTech Targeted MS/MS Hemo Device: https://www.shimadzu.com/an/sites/shimadzu.com.an/files/pim/pim_document_file/applications/application_note/21791/an_06-saip-lc-055-en.pdf

Hemoglobinopathies Newborn Screening by LCMS-8050 using ZenTech Targeted MS/MS Hemo device: https://www.zentech.be/assets/0d71e5e6-4073-450a-ae89-dc4669462026/sca-210-064-hemoglobinopathies-newborn-screening-using-zentech-targeted-msms-hemo-device.pdf

Associated publications

Sickle Cell Disease is associated with significant morbidity and mortality in young children. Hemoglobinopathies are the most common monogenic pathology worldwide. The number of subjects who are heterozygous carriers is estimated at approximately 7% of the global population. Therefore, each year between 300,000 and 400,000 children are born worldwide with severe hemoglobinopathy.

The onset of major neonatal sickle cell disease is as early as three months of age. The progression of the disease is pronounced by acute complications of three types: vaso-occlusive crises causing intense and sudden pain in certain parts of the body (commonly hands, feet, hips, abdomen), hemolysis and infections.

β-thalassemia major is characterized by chronic hemolytic anemia. Hepatosplenomegaly and skeletal deformities are manifestations of medullary hyperplasia. These patients are also prone to infections and spontaneous fractures.

The benefits of early screening have been clearly demonstrated only for the following phenotypes: Hb SS, Hb SC, Hb SDPunjab, Hb Sβ thalassemia (β+, β0, δβ, Lepore), Hb SOArab and Hb S/HPFH. Early identification through screening allows for timely medical interventions, such as blood transfusions and hydroxyurea therapy, which can significantly reduce the risk of complications and improve overall survival and quality of life. Implementing widespread newborn screening programs for these hemoglobinopathies can thus play a crucial role in reducing the burden of disease globally, especially in regions where these conditions are more prevalent.