Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China DOI Creative Commons

Linglong Tan,

Ting Huang, Laipeng Luo

et al.

Hemoglobin, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 6

Published: Dec. 10, 2024

Hemoglobin disorders are highly prevalent inherited hematological defects in Southern China. The identification of novel variants globin genes and accurate assessment parameters play a crucial role precise genetic counseling clinical practice. Peripheral blood samples were collected for analysis, including red cell hemoglobin assessment, while serum ferritin levels measured to detect iron depletion. Thalassemia carrier was conducted four subjects admitted Jiangxi Maternal Child Health Hospital using next-generation sequencing Gap-PCR due the high prevalence thalassemia Province. identified rare or small nucleotide subsequently validated through Sanger sequencing. A total incidentally unrelated subjects,

Language: Английский

Enhanced sensitivity and optimization with machine learning for gold-graphene encoded metasurface sensor applied for haemoglobin detection DOI
Jacob Wekalao,

Ngaira Mandela,

Shobhit K. Patel

et al.

Measurement, Journal Year: 2025, Volume and Issue: unknown, P. 116883 - 116883

Published: Jan. 1, 2025

Language: Английский

Citations

19

Selective Extraction and Quantification of Hemoglobin Based on a Novel Molecularly Imprinted Nanopolymeric Structure of Poly(acrylamide-vinyl imidazole) DOI Creative Commons
Koray Şarkaya, Hilal Özçelik, Esra Yaşar

et al.

ACS Omega, Journal Year: 2024, Volume and Issue: 9(16), P. 18458 - 18468

Published: April 15, 2024

Imbalances in hemoglobin (Hb) levels can lead to conditions such as anemia or polycythemia, emphasizing the importance of precise Hb extraction from blood. To address this, a novel synthetic imprinted polymer was meticulously developed for capturing and separating Hb. Poly(acrylamide-vinylimidazole) nanopolymer (poly(AAm-VIM)) synthesized using acrylamide vinyl imidazole functional monomers through surfactant-free emulsion polymerization. Characterization FTIR, particle size, zeta potential, SEM ensured polymer's structure. The Hb-imprinted (Hb-poly(AAm-VIM)) demonstrated notable specificity, with calculated Hb-specific adsorption value (Qmax) 3.7377 mg/g medium containing 2.5 mg/mL molecularly (MIP) exhibited approximately 5 times higher than nonimprinted (NIP). Under same conditions, displayed 2.39 2.17 greater selectivity over competing proteins bovine serum albumin (BSA) lysozyme (Lys), respectively. Also, SDS-PAGE analysis results confirmed purification by nanopolymer. These underscore heightened specificity efficacy selectively targeting atoms among other proteins. Incorporating polymers is justified their affinity, cost-effectiveness, facile production. This research contributes valuable insights into optimizing efficient extraction, potential medical diagnostics treatment applications.

Language: Английский

Citations

6

Characterization of Hemoglobin Variants by Capillary Electrophoresis, UV–Vis, and FTIR Spectroscopy DOI Open Access
Julia Werle, Kateřina Dunovská,

Jakub PODHAJSKY

et al.

Electrophoresis, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 7, 2025

ABSTRACT Hemoglobinopathies, hereditary disorders affecting the structure or production of hemoglobin, were detected by routine HbA 1c measurements capillary electrophoresis (CE) at University Hospital Motol, Prague. The potential ultraviolet–visible (UV–Vis) and Fourier‐transform infrared (FTIR) spectroscopy for detection characterization hemoglobinopathies was investigated. FTIR spectra recorded with a very high resolution (0.5 cm −1 ) 128 scans. broad amide I peak, located 1700–1600 , can be formed superimposition conformational structures hemoglobin. These secondary protein subjected to mathematical analysis. application band narrowing techniques, followed curve fitting integration processes, provided basis quantitative estimation structure. As result, unambiguous differences in UV–Vis among patients presumably normal an HbC hemoglobin S/hemoglobin G (HbS/HbG)‐Philadelphia variant could not demonstrated. However, indicated slight α‐helix, β‐turns, β‐sheet, random coil these mutations. In spectral wavenumber range 950–850 there some obvious specific wavenumbers between those variant. Further investigations are needed sufficient number variants elucidate potency hemoglobinopathies.

Language: Английский

Citations

0

Reference diagnosis and treatment process of juvenile hemochromatosis patients DOI
Yong He,

N. Wang,

Zhong Tao

et al.

World Journal of Clinical Cases, Journal Year: 2025, Volume and Issue: 13(15)

Published: Jan. 21, 2025

The compelling case report by Xie et al , published in a renowned medical journal, is an excellent example of meticulous clinical evaluation, comprehensive laboratory testing, advanced imaging, and genetic analysis. authors identified novel compound heterozygous mutations the hemojuvelin gene patient diagnosed with juvenile hemochromatosis. They suggested that long-term, strategic phlebotomy might offer therapeutic strategy for severe hemochromatosis, challenging traditional treatment paradigms.

Language: Английский

Citations

0

Smart lab-on-chip devices for healthcare DOI

Sumaira Younis,

Andleeb Anjum Qazalbash,

Arzish Javaid

et al.

Elsevier eBooks, Journal Year: 2025, Volume and Issue: unknown, P. 345 - 371

Published: Jan. 1, 2025

Language: Английский

Citations

0

Combined heterozygosity for hemoglobin Paksé, α-thalassemia and for hemoglobin E, β- thalassemia ̵ first appearance in Europe DOI Creative Commons
W. Schnedl,

Georg Leixner,

Astrid Voill‐Glaninger

et al.

Annals of Hematology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 28, 2025

Hemoglobinopathies are among the most common inherited diseases and they believed to be one of major etiologic factors contributing anemia. Thalassemia is characterized by an altered hemoglobin (Hb) chain synthesis may appear as alpha-(α-)thalassemia and/or beta-(β-)thalassemia. The clinical manifestations thalassemia range from asymptomatic severe, with potential ultimately result in death. search for underlying cause was prompted discovery patient Thai origin microcytic anemia no iron deficiency during a routine hematological examination. Genetic sequencing results revealed Hb Paksé, α2 CD 142 [A > T] (HBA2:c.429 A T) HbE β2 26 [G A] (HBB: c.79 G A). It essential that identification knowledge mutations facilitate recognition, genetic testing, counseling patients thalassemia. combination two variants, α-globin gene Paksé β-globin E, single individual occasionally described East Asia. first appearance combined heterozygosity E Europe provides evidence this migration-caused occurrence.

Language: Английский

Citations

0

Piezoelectric Chemosensors and Biosensors in Medical Diagnostics DOI Creative Commons
Miroslav Pohanka

Biosensors, Journal Year: 2025, Volume and Issue: 15(3), P. 197 - 197

Published: March 20, 2025

This article explores the development and application of innovative piezoelectric sensors in point-of-care diagnostics. It highlights significance bedside tests, such as lateral flow electrochemical providing rapid accurate results directly at patient’s location. paper delves into principles assays, emphasizing their ability to detect disease-related biomarkers through mechanical stress-induced electrical signals. Various applications chemosensors biosensors are discussed, including use detection cancer biomarkers, pathogens, other health-related analytes. also addresses integration materials with advanced sensing technologies improve diagnostic accuracy efficiency, offering a comprehensive overview current advances future directions medical

Language: Английский

Citations

0

Machine Learning-Based Prediction of Thalassemia: A Review DOI Creative Commons

Dawlat Abdulkarim,

Adnan Mohsin Abdulazeez

Indonesian Journal of Computer Science, Journal Year: 2024, Volume and Issue: 13(3)

Published: June 15, 2024

This article presents a comprehensive systematic review of recent advancements in machine learning (ML) applications for diagnosing Thalassemia, genetic hematologic disorder. Focusing on studies from the last five years, this highlighted significant technological ML, including use predictive modeling, image analysis, and deep algorithms, which have considerably improved accuracy efficiency Thalassemia diagnosis. The evaluates application various ML models analyzing extensive biomedical data, significantly enhances patient management treatment outcomes. Key challenges such as data diversity, model transparency, need robust training datasets are discussed, along with integration into existing clinical workflows. potential transformative impact hematology is underscored, critically evaluating its effectiveness ongoing developments field. aims to provide insights current research trends future directions diagnosis other similar hematological disorders.

Language: Английский

Citations

1

Deep learning ResNet34 model-assisted diagnosis of sickle cell disease via microcolumn isoelectric focusing DOI
Ali Sani, Youli Tian, Shah Saud

et al.

Analytical Methods, Journal Year: 2024, Volume and Issue: unknown

Published: Jan. 1, 2024

The study proposes a ResNet34 DL model for automated SCD diagnosis using mIEF Hb S, achieving 90.1% accuracy in classifying variants. model's precision suggests it could reduce costs and the reliance on need expert diagnosis.

Language: Английский

Citations

1

Green Extraction of Anthocyanins from Prunus domestica Using Natural Deep Eutectic Solvents: Anti-sickling Properties and Phenolic Impact Assessment DOI

Jagdish S. Patil,

Pravin O. Patil, Sopan Nangare

et al.

Food Analytical Methods, Journal Year: 2024, Volume and Issue: 17(10), P. 1432 - 1445

Published: July 12, 2024

Language: Английский

Citations

0