Hemoglobin disorder diagnosis is a complex procedure combining several analytical steps. Due to the lack of specificity of the currently used protein analysis methods, the identification of uncommon hemoglobin variants (proteoforms) can become a hard task to accomplish. The aim of this work was to develop a mass spectrometry-based approach to quickly identify mutated protein sequences within globin chain variants. To reach this goal, a top-down electron transfer dissociation mass spectrometry method was developed for hemoglobin β chain analysis. A diagnostic product ion list was established with a color code strategy allowing to quickly and specifically localize a mutation in the hemoglobin β chain sequence. The method was applied to the analysis of rare hemoglobin β chain variants and an (A)γ-β fusion protein. The results showed that the developed data analysis process allows fast and reliable interpretation of top-down electron transfer dissociation mass spectra by nonexpert users in the clinical area.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00216-015-8525-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Background: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
Background: Glycosylated hemoglobin (HbA1c) is a stable compound in human blood that covalently binds the N-terminal valine residue of the β-chain in hemoglobin A to the free aldehyde group of glucose. It can reflect the average blood glucose level of patients in the past 2 - 3 months. Therefore, the accuracy of HbA1c detection results is of great significance for the diagnosis and differential diagnosis of diabetes.
View Article and Find Full Text PDFLoss of FTH1 Induces Ferritinophagy-Mediated Ferroptosis in Anaemia of Myelodysplastic Syndromes.
J Cell Mol Med
January 2025
Department of Hematology, General Hospital, Tianjin Medical University, Tianjin, China.
Single-cell sequencing of lineage negative (Lin-) cells from patients with myelodysplastic syndromes (MDS) revealed a reduction in ferritin heavy chain 1 (FTH1) levels, yet the significance of this decrease in FTH1 in the pathophysiology of MDS remains unclear. In this study, we evaluated the role of FTH1 in patients with MDS. The mRNA expression of FTH1 in GlycoA nucleated erythrocytes from MDS patients was significantly lower than that in control group.
View Article and Find Full Text PDFAn 18-Year Review of Hemoglobinopathy Proficiency Testing: Recommendations From the College of American Pathologists Hematology and Clinical Microscopy Committee.
Arch Pathol Lab Med
January 2025
the Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia (Pozdnyakova).
Context.—: The College of American Pathologists Hematology and Clinical Microscopy Committee implemented a hemoglobinopathy proficiency testing and education program to monitor and assess the performance of participating laboratories.
Objective.
Correlation between polymorphisms of gene and renal injury in patients with type 2 diabetes mellitus.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Nephrology, Third Xiangya Hospital, Central South University, Changsha 410013.
Objectives: Genetic factors play an important role in the pathogenesis of diabetic kidney disease (DKD). Studies have shown that gene polymorphism is associated with the pathogenesis of type 2 diabetes mellitus (T2DM), but its role in DKD remains unclear. This study aims to analyze the distribution of alleles and genotypes of gene in patients with T2DM, and investigate the association between genetic polymorphism and DKD susceptibility in T2DM patients, which may provide new ideas for the pathogenesis of DKD.
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!