Early diagnosis of hemoglobin disorders and Thalassemias are become more important due to a high carrier frequency and ease of global migration. In a prospective study of over 5,000 samples, we investigated the use of High-Resolution Mass Spectrometry (HR/MS) as an improved tool for identification of hemoglobinopathes and β-Thalassemias in newborn screening. Our results show HR/MS is a suitable method for newborn screening. You can read the full details in Clinical Chemistry and Laboratory Medicine. Read here.
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Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry
Post on Diagnostics
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Lyso-GL-3: An important Fabry biomarker associated with adverse clinical outcomes
Biomarkers in Rare Diseases play a dual and significant role in supporting improved clinical outcomes. In Fabry Disease (FD), the glycosphingolipid globotriaosylceramide (Gb3/GL-3) and its… Read more
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New testing options for Cerebrotendinous Xanthomatosis (CTX)
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The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarker
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Abstract In this prospective study, samples from 14,830 individuals… Read more
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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Pompe disease, also known as glycogen storage disease type II (GSD II), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme… Read more
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Staying focused on Rare Diseases
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Advanced diagnostics for Mucopolysaccharidoses
Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders affecting lysosomal metabolism. MPSs result in the accumulation of glycosaminoglycans in the body and can… Read more