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.
Back
Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry
Post on Diagnostics
-
Staying focused on Rare Diseases
At ARCHIMEDlife, our focus continues to be on Rare Diseases and special diagnostics. Since March 2020, COVID-19 has challenged us all both personally and professionally.… Read more
-
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
-
High incidence of α-Mannosidosis in ‘MPS-like’ phenotypes
α-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a gene responsible for metabolizing oligosaccharides. Besides… Read more
-
Diagnostic Strategy for Females Suspected of Fabry Disease
Fabry disease (FD) is a X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide (GL-3/Gb3) lipid accumulation in the cells… Read more
-
Importance of including ASMD diagnostics in suspected Gaucher patients
Acid Sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Type A/B, is characterized by an enzyme deficiency that leads to the toxic accumulation of sphingomyelin. “Recent… Read more
-
Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry
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… Read more