Recently genetic disorders are the most common reason for human fatality. Sickle Cell anemia is a monogenic disorder caused by A-to-T point mutations in the β-globin gene which produces abnormal hemoglobin S (Hgb S) that polymerizes at the state of deoxygenation thus resulting in the physical deformation or erythrocytes sickling. This shortens the expectancy of human life. Thus, the early diagnosis and identification of sickle cell will aid the people in recognizing signs and to take treatments. The manual identification is a time consuming one and might outcome in the misclassification of count as there is millions of red blood cells in one spell. So as to overcome this, data mining approaches like Quantum graph theory model and classifier is effective in detecting sickle cell anemia with high precision rate. The proposed work aims at presenting a mathematical modeling using Quantum graph theory to extract elasticity properties and to distinguish them as normal cells and sickle cell anemia (SCA) in red blood cells. Initially, input DNA sequence is taken and the elasticity property features are extracted by using Quantum graph theory model at which the formation of spanning tree is made followed by graph construction and Hemoglobin quantization. After which, the extracted properties are optimized using Aquila optimization and classified using cascaded Long Short-Term memory (LSTM) to attain the classified outcome of sickle cell and normal cells. Finally, the performance assessment is made and the outcomes attained in terms of accuracy, precision, sensitivity, specificity, and AUC are compared with existing classifier to validate the proposed system effectiveness.
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http://dx.doi.org/10.3934/mbe.2022470 | DOI Listing |
J Clin Med
January 2025
Department of Life Sciences and Biotechnology, Ferrara University, 44121 Ferrara, Italy.
: Cellular biobanks are of great interest for performing studies finalized in the development of personalized approaches for genetic diseases, including β-thalassemia and sickle cell disease (SCD), important diseases affecting the hematopoietic system. These inherited genetic diseases are characterized by a global distribution and the need for intensive health care. The aim of this report is to present an update on the composition of a cellular Thal-Biobank, to describe its utilization since 2016, to present data on its application in studies on fetal hemoglobin induction and on gene editing, and to discuss its employment as a "unique tool" during and after the COVID-19 pandemic.
View Article and Find Full Text PDFJ Clin Med
January 2025
Department of Cardiovascular & Thoracic Anaesthesia and Critical Care, University Hospital of Martinique, F-97200 Fort-de-France, Martinique, France.
Acute cardiovascular disorders are incriminated in up to 33% of maternal deaths, and the presence of sickle cell anemia (SCA) aggravates the risk of peripartum complications. Herein, we present a 24-year-old Caribbean woman with known SCA who developed a vaso-occlusive crisis at 36 weeks of gestation that required emergency Cesarean section. In the early postpartum period, she experienced fever with rapid onset of acute respiratory distress in the context of COVID-19 infection that required tracheal intubation and mechanical ventilatory support with broad-spectrum antibiotics and blood exchange transfusion.
View Article and Find Full Text PDFBMC Endocr Disord
January 2025
Department of Public Health Studies, Elon University, Elon, NC, USA.
Background: The increasing prevalence of type 2 diabetes mellitus (T2DM) in lower and middle - income countries call for preventive public health interventions. Studies from Africa including those from Ghana, consistently reveal high T2DM-related mortality rates. While previous research in the Ho municipality has primarily examined risk factors, comorbidity, and quality of life of T2DM patients, this study specifically investigated mortality predictors among these patients.
View Article and Find Full Text PDFMol Biotechnol
January 2025
Department of Pharmaceutical Chemistry, Faculty of Pharmacy, University of Tabuk, Tabuk, Saudi Arabia.
Clustered, regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein (Cas) system is a new gene editing tool that represents a revolution in gene therapy. This study aimed to review the clinical trials conducted to evaluate the efficacy and safety of the CRISPR/Cas9 system in treating thalassemia and sickle cell disease (SCD). We searched relevant literature using "CRISPR Cas", "thalassemia", "sickle cell" and "clinical trial" as subject terms in PubMed, Cochrane, Web of Science, and Google Scholar up to December 3rd, 2023.
View Article and Find Full Text PDFBMJ
January 2025
NHS Blood and Transplant, Barts Health NHS Trust, London, UK.
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