It is known that an inherited blood condition called sickle cell disease (SCD) is a result of one gene. A number of blood and urine biomarkers have been determined in association with lab and clinical history for SCD patients. SCD has numerous interacting pathways associated with it, which have been identified by biomarkers. These mechanisms consist of some examples, such as endothelial vasodilation response, hypercoagulability, hemolysis, inflammation, oxidative stress, vascular dysfunction, and reperfusion injury among others. To effectively manage SCD, a comprehensive panel of validated blood and urine biomarkers must be established. Despite its monogenic inheritance, the complex nature of the SCD phenotype has impeded progress in its treatment. However, significant strides have been made in clinical biotechnology, paving the way for potential breakthroughs. In SCD, a panel of verified blood and urine biomarkers must be established, however. Despite monogenic inheritance, the great complexity of the SCD phenotype has hindered progress in its management. With few exceptions, clinical biomarkers of illness severity have been found through epidemiological investigations; nevertheless, systematic integration of these biomarkers into clinical treatment algorithms has not occurred. Furthermore, sickle cell crisis, the primary acute consequence of SCD, has been difficult to diagnose with the biomarkers now in use. Inadequate care and a lack of appropriate outcome measures for clinical research are the consequences of these diagnostic constraints. A new chapter in SCD customized treatment has begun with recent advancements in molecular and imaging diagnostics. Strategies in precision medicine are especially relevant now that molecular therapies are within reach. The significance of biochemical indicators linked to clinical manifestation and sub-phenotype identification in SCD is reviewed in this research.
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http://dx.doi.org/10.7759/cureus.56389 | DOI Listing |
Cureus
December 2024
Surgery, George Washington University School of Medicine and Health Sciences, Washington, D.C., USA.
A 31-year-old male patient with a history of sickle cell disease (SCD) with stage V chronic kidney disease (CKD) presented for a deceased donor kidney transplant. During surgery, the transplanted kidney showed mottling and limited cortical flow, raising concerns for an intraoperative sickle cell crisis versus hyperacute rejection. Postoperative imaging revealed decreased vascularity, and the patient was treated with RBC exchange.
View Article and Find Full Text PDFCan J Kidney Health Dis
January 2025
Multiorgan Transplant Program, Division of Nephrology, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.
Background: Kidney failure is a prevalent condition with tendency for familial clustering in up to 27% of the affected individuals. Living kidney donor (LKD) transplantation is the optimal treatment option; however, in Canada, more than 45% of LKDs are biologically related to their recipients which subjects recipients to worse graft survival and donors to higher future risk of kidney failure. Although not fully understood, this observation could be partially explained by genetic predisposition to kidney diseases.
View Article and Find Full Text PDFInt Arch Otorhinolaryngol
January 2025
Department of Audiology, All India Institute of Speech and Hearing, Mysore, Karnataka, India.
Sickle cell anemia (SCA) is a genetic disorder with clinical manifestations due to circulatory changes, leading to adverse effects on the auditory system that might impact auditory processing, such as auditory discrimination and speech perception ability. This condition is associated with the severity level of anemia. The purpose of the present study was to investigate the influence of anemia severity on auditory discrimination ability and speech perception in noise among SCA patients with normal hearing sensitivity.
View Article and Find Full Text PDFPediatr Blood Cancer
January 2025
Division of Hematology, Children's National Hospital, Washington, District of Columbia, USA.
Background: Sickle cell disease (SCD) confers neurological risks that contribute to cognitive and academic difficulties. Clinical guidelines state that cognition should be monitored using signaling questions. However, evidence is lacking regarding the extent to which signaling questions accurately identify children with cognitive issues.
View Article and Find Full Text PDFJ 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.
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