Importance Of The Field: Molecular blood group prediction, including mass scale donor genotyping, is becoming a routine part of transfusion medicine.
Areas Covered In This Review: This review covers transfusion-related applications of the molecular prediction of antigens of red blood cells. Forensic and prenatal applications are not covered. The review is mainly based on the personal experience of the author in the field. A PubMed literature search without temporal limit was performed using the search item 'molecular testing transfusion' and complemented by 'related articles' searches of key publications.
What The Reader Will Gain: The readers will understand the general principles and specific problems arising from the use of molecular testing for blood group antigen prediction, get an overview of methods used at present, and learn which methods are suitable for which specific applications.
Take Home Message: At present, molecular methods complement serologic antigen determination and are an invaluable tool for specific diagnostic problems. Mass-scale molecular antigen prediction of blood donors is beginning to improve blood supply for specific patient groups.
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http://dx.doi.org/10.1517/17530059.2010.506509 | DOI Listing |
Genet Med
January 2025
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa. Electronic address:
Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Rheumatology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui, China.
Background: Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by synovial inflammation and progressive joint destruction. Neutrophil extracellular traps (NETs), a microreticular structure formed after neutrophil death, have recently been implicated in RA pathogenesis and pathological mechanisms. However, the underlying molecular mechanisms and key genes involved in NET formation in RA remain largely unknown.
View Article and Find Full Text PDFBiomed Hub
December 2024
Departments of Surgery, Yale School of Medicine, New Haven, CT, USA.
Introduction: Monogenic diseases can be diagnosed before birth. Systemic fetal administration of nanoparticles (NPs) grants therapeutic access to developing stem cell populations impacted by these classes of disease. Delivery of editing reagents in these NPs administered before birth has yielded encouraging results in preclinical mouse models of monogenic diseases.
View Article and Find Full Text PDFCureus
December 2024
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
Haemoglobin (Hb) AE Bart's disease is a rare form of thalassemia that results from the co-inheritance of Hb E and alpha thalassemia, typically with Hb H disease. The clinical severity can vary depending on the underlying genetic mutations, particularly in the presence of Hb Constant Spring (Hb CS), which is a highly unstable form of alpha thalassemia. Understanding the genetic basis and haematological profiles of Hb AE Bart's disease is crucial for proper diagnosis and management.
View Article and Find Full Text PDFJ Inflamm Res
January 2025
Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, People's Republic of China.
Background: The common occurrence of atrial fibrillation (AF) as a cardiac arrhythmia, along with its link to sleep deprivation (SD), is gaining more acknowledgment. Even with progress in comprehending the development of AF, the molecular connections between SD and AF are still not well-defined. The objective of this research was to pinpoint the shared molecular routes responsible for SD-induced AF and investigate possible treatment targets.
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