Red Cell Genotyping
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Red Cell Genotyping
Red cell genotyping, also known as blood group genotyping, is a molecular technique used to identify genetic variants responsible for antigens on the surface of red blood cells. Genotyping in transfusion medicine Unlike traditional serological testing, which relies on the presence of antibodies to detect antigens, genotyping analyzes DNA to determine an individual's blood group profile with high accuracy. This approach is particularly valuable in complex transfusion cases, such as in patients with multiple alloantibodies, hemoglobinopathies, or recent transfusions that can obscure serological results. Red cell genotyping enhances transfusion safety by enabling precise donor-recipient matching, reducing the risk of alloimmunization, and improving outcomes for patients requiring chronic transfusions, such as sickle cell disease and thalassemia. The molecular testing of red cell antigens is often handled in conjunction with platelet and neutrophil antigens by professional orga ...
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Blood Type
A blood type (also known as a blood group) is based on the presence and absence of antibody, antibodies and Heredity, inherited antigenic substances on the surface of red blood cells (RBCs). These antigens may be proteins, carbohydrates, glycoproteins, or glycolipids, depending on the blood group system. Some of these antigens are also present on the surface of other types of Cell (biology)#Eukaryotic cells, cells of various Tissue (biology), tissues. Several of these red blood cell surface antigens can stem from one allele (or an alternative version of a gene) and collectively form a blood group system. Blood types are inherited and represent contributions from both parents of an individual. As of October 2024, a total of 47 human blood group systems are recognized by the International Society of Blood Transfusion (ISBT). The two most important blood group systems are ABO blood group system, ABO and Rh blood group system, Rh; they determine someone's blood type (A, B, AB, and O ...
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International Society Of Blood Transfusion
The International Society of Blood Transfusion (ISBT) is a scientific society founded in 1935 which promotes the study of blood transfusion and provides information about the ways in which blood transfusion medicine and science can best serve patients' interests. The society's central office is in Amsterdam, and there are around 1900 members in 103 countries. As of June 2024, the president of the ISBT is Pierre Tiberghien. ISBT is governed by a voluntary board of 16 directors, representing all WHO regions. ISBT has 16 scientific working parties, which are groups of ISBT members promoting science, research and best practice in their specific areas of expertise. ISBT advocates for standardisation and harmonisation in the field of blood transfusion. The other major impact on the transfusion community is the classification of various human blood group systems under a common nomenclature. ISBT's coordination also extends to obtaining donors with rare antigens, a process that often ...
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Hematology
Hematology (American and British English spelling differences#ae and oe, spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. It involves treating diseases that affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, bone marrow, platelets, blood vessels, spleen, and the mechanism of coagulation. Such diseases might include hemophilia, sickle cell anemia, blood clots (thrombus), other bleeding disorders, and blood cancers such as leukemia, multiple myeloma, and lymphoma. The laboratory analysis of blood is frequently performed by a medical technologist or medical laboratory scientist. Specialization Physicians specialized in hematology are known as hematologists or haematologists. Their routine work mainly includes the care and treatment of patients with hematological diseases, although some may also work at the hema ...
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Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Phenotypic trait, Trait inheritance and Molecular genetics, molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the Cell (bi ...
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Blood
Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood is composed of blood cells suspended in blood plasma. Plasma, which constitutes 55% of blood fluid, is mostly water (92% by volume), and contains proteins, glucose, mineral ions, and hormones. The blood cells are mainly red blood cells (erythrocytes), white blood cells (leukocytes), and (in mammals) platelets (thrombocytes). The most abundant cells are red blood cells. These contain hemoglobin, which facilitates oxygen transport by reversibly binding to it, increasing its solubility. Jawed vertebrates have an adaptive immune system, based largely on white blood cells. White blood cells help to resist infections and parasites. Platelets are important in the clotting of blood. Blood is circulated around the body through blood vessels by the ...
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Rh Factor Testing
Rh factor testing, also known as Rhesus factor testing, is the procedure of determining the Rhesus D status of an individual (see Rh blood group system). Background Rhesus factor testing utilizes genotyping to detect the presence of the RhD gene. By checking the existence of the RhD gene in the individual's genome, the presence of Rhesus D (RhD) antigens can be inferred. Individuals with a positive RhD status have RhD antigens expressed on the cell membrane of their red blood cells, whereas Rhesus D antigens are absent for individuals with a negative RhD status. Rhesus factor testing is usually performed on pregnant women to determine the RhD blood group of the mother and the fetus. By confirming the RhD status of both mother and fetus, precautions can be made, if necessary, to prevent any medical complications caused by Rhesus incompatibility. Rhesus factor The entire Rh blood group system involves multiple antigens and genes. For Rh factor testing, however, only the Rhesus ...
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ABO Blood Group System
The ABO blood group system is used to denote the presence of one, both, or neither of the A and B antigens on erythrocytes (red blood cells). For human blood transfusions, it is the most important of the 47 different blood type (or group) classification systems currently recognized by the International Society of Blood Transfusions (ISBT) as of December 2022. A mismatch in this serotype (or in various others) can cause a potentially fatal adverse reaction after a transfusion, or an unwanted immune response to an organ transplant. Such mismatches are rare in modern medicine. The associated anti-A and anti-B antibodies are usually IgM antibodies, produced in the first years of life by sensitization to environmental substances such as food, bacteria, and viruses. The ABO blood types were discovered by Karl Landsteiner in 1901; he received the Nobel Prize in Physiology or Medicine in 1930 for this discovery. ABO blood types are also present in other primates such as apes, ...
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Blood Compatibility Testing
Blood compatibility testing is conducted in a medical laboratory to identify potential incompatibilities between blood group systems in blood transfusion. It is also used to diagnose and prevent some complications of pregnancy that can occur when the baby has a different blood group from the mother. Blood compatibility testing includes blood typing, which detects the antigens on red blood cells that determine a person's blood type; testing for unexpected antibodies against blood group antigens (antibody screening and identification); and, in the case of blood transfusions, mixing the recipient's plasma with the donor's red blood cells to detect incompatibilities (crossmatching). Routine blood typing involves determining the ABO and RhD (Rh factor) type, and involves both identification of ABO antigens on red blood cells (forward grouping) and identification of ABO antibodies in the plasma (reverse grouping). Other blood group antigens may be tested for in specific clinical situ ...
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Human Blood Group Systems
The term human blood group systems is defined by the International Society of Blood Transfusion (ISBT) as systems in the human species where cell-surface antigens—in particular, those on blood cells—are "controlled at a single gene locus or by two or more very closely linked homologous genes with little or no observable recombination between them", and include the common ABO and Rh (Rhesus) antigen systems, as well as many others; 47 human systems are identified . Table of systems and classifications Antibodies Following is a comparison of clinically relevant characteristics of antibodies against the main human blood group systems: Compatibility testing Blood compatibility testing is performed before blood transfusion, including matching of the ABO blood group system and the Rh blood group system, as well as screening for recipient antibodies against other human blood group systems. Blood compatibility testing is also routinely performed on pregnant women and on ...
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Glycosylphosphatidylinositol
Glycosylphosphatidylinositol () or glycophosphatidylinositol (GPI) is a phosphoglyceride that can be attached to the C-terminus of a protein during posttranslational modification. The resulting GPI-anchored proteins play key roles in a wide variety of biological processes. GPI is composed of a phosphatidylinositol group linked through a carbohydrate-containing linker (glucosamine and mannose glycosidically bound to the inositol residue) and via an ethanolamine phosphate (EtNP) bridge to the C-terminal amino acid of a mature protein. The two fatty acids within the hydrophobic phosphatidyl-inositol group anchor the protein to the cell membrane. Synthesis Glycosylated (GPI-anchored) proteins contain a signal sequence, thus directing them to the endoplasmic reticulum (ER). The protein is co-translationally inserted in the ER membrane via a translocon and is attached to the ER membrane by its hydrophobic C terminus; the majority of the protein extends into the ER lumen. The hy ...
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Glycolipids
Glycolipids () are lipids with a carbohydrate attached by a glycosidic (covalent) bond. Their role is to maintain the stability of the cell membrane and to facilitate cellular recognition, which is crucial to the immune response and in the connections that allow cells to connect to one another to form tissues. Glycolipids are found on the surface of all eukaryotic cell membranes, where they extend from the phospholipid bilayer into the extracellular environment. Structure The essential feature of a glycolipid is the presence of a monosaccharide or oligosaccharide bound to a lipid moiety. The most common lipids in cellular membranes are glycerolipids and sphingolipids, which have glycerol or a sphingosine backbones, respectively. Fatty acids are connected to this backbone, so that the lipid as a whole has a polar head and a non-polar tail. The lipid bilayer of the cell membrane consists of two layers of lipids, with the inner and outer surfaces of the membrane made up of t ...
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Glycoproteins
Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. Secreted extracellular proteins are often glycosylated. In proteins that have segments extending extracellularly, the extracellular segments are also often glycosylated. Glycoproteins are also often important integral membrane proteins, where they play a role in cell–cell interactions. It is important to distinguish endoplasmic reticulum-based glycosylation of the secretory system from reversible cytosolic-nuclear glycosylation. Glycoproteins of the cytosol and nucleus can be modified through the reversible addition of a single GlcNAc residue that is considered reciprocal to phosphorylation and the functions of these are likely to be an additional regulatory mechanism that controls phosphorylation-based signalling. In ...
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