Analytical procedures have been developed for the detection and diagnosis of sickle cell disease in newborn babies by analyzing the hemoglobin extracted from dried blood spots on Guthrie cards using electrospray ionization mass spectrometry (ESI-MS). An essential requirement is the ability to reliably differentiate two globin chains whose molecular weights differ by only 1 Da such as adult hemoglobin (Hb A) and Hb C. This has been achieved by improving the accuracy and precision of the molecular weight determination to a fraction of a dalton. We report the potential of mass spectrometry for screening neonates for these debilitating diseases by presenting results from 147 blood spots that had been characterized by phenotypic methods and which include samples from 20 sickle cell disease, 1 beta-thalassemia major, 57 sickle cell trait, and 39 normal babies. In all cases, the mass spectrometric results agreed with the results obtained using conventional analytical practice with high-performance liquid chromatography (HPLC) and isoelectric focusing (IEF). We show that mass spectrometry is a viable technique for the diagnosis of newborns with sickle cell disease or homozygous beta0-thalassemia.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.bcmd.2004.07.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Phyto-Fingerprinting of Putranjiva roxburghii Wall. Leaf Extract and its In Vitro Anti-Inflammatory Activity.
Cell Biochem Biophys
January 2025
Department of Zoology, MMV, Banaras Hindu University, Varanasi, 221005, UP, India.
Putranjiva roxburghii is an important medicinal plant utilized for remedy of female reproductive ailments. Its seed extract is being used as a uterine health booster due to the presence of several pharmaceutically important phytochemicals. However, the presence of phytochemicals in its leaf is still unexplored.
View Article and Find Full Text PDFCharacterization of insulin and bile acid complexes in liposome by different mass spectrometry techniques.
Anal Bioanal Chem
January 2025
Jiangsu Collaborative Innovation Center of Biomedical Functional Materials, Jiangsu Key Laboratory of Biomedical Materials, School of Chemistry and Materials Science, Nanjing Normal University, Nanjing, 210023, China.
Insulin bound with ligand molecules can improve its bioavailability in oral formulations. In this work, the interactions between insulin and bile acids of taurocholic acid (TCA) and glycocholic acid (GCA) are characterized using different mass spectrometry (MS) methods. Electrospray (ESI)-MS analysis revealed that GCA and TCA could interact with insulin individually or together through non-covalent bonds, and the products included mGCA-insulin, nTCA-insulin, and mGCA-nTCA-insulin complexes.
View Article and Find Full Text PDFCross-sectional study of proteomic differences between moderate and severe psoriasis.
Sci Rep
January 2025
Department of Dermatology, Dermatology Hospital of Zhejiang Province, Huzhou, 313299, China.
Although an ongoing understanding of psoriasis vulgaris (PV) pathogenesis, little is known about the proteomic differences between moderate and severe psoriasis. In this cross-sectional study, we evaluated the proteomic differences between moderate and severe psoriasis using data-independent acquisition mass spectrometry (DIA-MS). 173 differentially expressed proteins (DEPs) were significantly differentially expressed between the two groups.
View Article and Find Full Text PDFPhosphorylation-dependent WRN-RPA interaction promotes recovery of stalled forks at secondary DNA structure.
Nat Commun
January 2025
Mechanisms, Biomarkers and Models Section - Genome Stability Group, Department of Environment and Health, Istituto Superiore di Sanità, Viale Regina Elena, 299 - 00161, Rome, Italy.
The WRN protein is vital for managing perturbed replication forks. Replication Protein A strongly enhances WRN helicase activity in specific in vitro assays. However, the in vivo significance of RPA binding to WRN has largely remained unexplored.
View Article and Find Full Text PDFmsiFlow: automated workflows for reproducible and scalable multimodal mass spectrometry imaging and microscopy data analysis.
Nat Commun
January 2025
Institute for Experimental Immunology and Imaging, University Hospital Essen, Essen, Germany.
Multimodal imaging by matrix-assisted laser desorption ionisation mass spectrometry imaging (MALDI MSI) and microscopy holds potential for understanding pathological mechanisms by mapping molecular signatures from the tissue microenvironment to specific cell populations. However, existing software solutions for MALDI MSI data analysis are incomplete, require programming skills and contain laborious manual steps, hindering broadly applicable, reproducible, and high-throughput analysis to generate impactful biological discoveries. Here, we present msiFlow, an accessible open-source, platform-independent and vendor-neutral software for end-to-end, high-throughput, transparent and reproducible analysis of multimodal imaging data.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!