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Blood Apr 2019Genomics is affecting all areas of medicine. In transfusion medicine, DNA-based genotyping is being used as an alternative to serological antibody-based methods to... (Review)
Review
Genomics is affecting all areas of medicine. In transfusion medicine, DNA-based genotyping is being used as an alternative to serological antibody-based methods to determine blood groups for matching donor to recipient. Most antigenic polymorphisms are due to single nucleotide polymorphism changes in the respective genes, and DNA arrays that target these changes have been validated by comparison with antibody-based typing. Importantly, the ability to test for antigens for which there are no serologic reagents is a major medical advance to identify antibodies and find compatible donor units, and can be life-saving. This review summarizes the evolving use and applications of genotyping for red cell and platelet blood group antigens affecting several areas of medicine. These include prenatal medicine for evaluating risk of fetal or neonatal disease and candidates for Rh-immune globulin; transplantation for bone marrow donor selection and transfusion support for highly alloimmunized patients and for confirmation of A2 status of kidney donors; hematology for comprehensive typing for patients with anemia requiring chronic transfusion; and oncology for patients receiving monoclonal antibody therapies that interfere with pretransfusion testing. A genomics approach allows, for the first time, the ability to routinely select donor units antigen matched to recipients for more than ABO/RhD to reduce complications. Of relevance, the growth of whole-genome sequencing in chronic disease and for general health will provide patients' comprehensive extended blood group profile as part of their medical record to be used to inform selection of the optimal transfusion therapy.
Topics: Blood Group Antigens; Blood Grouping and Crossmatching; Genomics; Humans
PubMed: 30808639
DOI: 10.1182/blood-2018-11-833954 -
Science (New York, N.Y.) Apr 1966
Review
Topics: ABO Blood-Group System; Blood Group Antigens; Erythrocytes; Humans; Lewis Blood Group Antigens; MNSs Blood-Group System; Molecular Structure; Rh-Hr Blood-Group System
PubMed: 12325343
DOI: 10.1126/science.152.3719.172 -
Transfusion Jul 2007Molecular methods for blood group genotyping became available more than 10 years ago as one major aspect of immunogenetics. Since then, the clinical applications have... (Review)
Review
BACKGROUND
Molecular methods for blood group genotyping became available more than 10 years ago as one major aspect of immunogenetics. Since then, the clinical applications have been expanded and refined. Their implementation varies considerably among different health-care systems, notably between North America and Europe.
STUDY DESIGN
This summary is based on studies published mostly during the last 3 years and on workshop reports from the German and Swiss transfusion societies. It represents an edited transcript of the author's presentation given at the Workshop on Molecular Methods in Immunohematology organized by the Food and Drug Administration (FDA) in Bethesda on September 25, 2006.
RESULTS
Current applications of blood group genotyping in Germany, Switzerland, and Austria are detailed: weak D testing in patients and pregnant women; blood group genotyping in perinatal care, in patients who received a transfusion, and in patients with immunohematologic problems; RHD genotyping in donors for DEL and D(+/-) chimera; and RHD zygosity testing.
CONCLUSION
Since around 2000, molecular tests for blood groups have been widely offered as a routine service. Many samples are shipped to reference laboratories in the German-speaking countries with the specific request for such testing. The advent of Conformité Européenne (CE)-labeled test kits renders it technically and legally possible, within the specifications of the CE-certification process for in vitro diagnostic devices in the European Union, to replace several blood group serology tasks by genotyping.
Topics: Blood Donors; Blood Group Antigens; Blood Grouping and Crossmatching; Female; Gene Frequency; Genotype; Germany; Humans; Molecular Diagnostic Techniques; Perinatal Care; Phenotype; Pregnancy; Prenatal Diagnosis; Rh-Hr Blood-Group System
PubMed: 17593286
DOI: 10.1111/j.1537-2995.2007.01310.x -
The Indian Journal of Medical Research Sep 2017The molecular basis of the blood group antigens was identified first in the 1980s and 1990s. Since then the importance of molecular biology in transfusion medicine has... (Review)
Review
The molecular basis of the blood group antigens was identified first in the 1980s and 1990s. Since then the importance of molecular biology in transfusion medicine has been described extensively by several investigators. Molecular genotyping of blood group antigens is one of the important aspects and is successfully making its way into transfusion medicine. Low-, medium- and high-throughput techniques have been developed for this purpose. Depending on the requirement of the centre like screening for high- or low-prevalence antigens where antisera are not available, correct typing of multiple transfused patients, screening for antigen-negative donor units to reduce the rate of alloimmunization, etc. a suitable technique can be selected. The present review discusses the evolution of different techniques to detect molecular genotypes of blood group systems and how these approaches can be used in transfusion medicine where haemagglutination is of limited value. Currently, this technology is being used in only a few blood banks in India. Hence, there is a need for understanding this technology with all its variations.
Topics: Blood Group Antigens; Blood Grouping and Crossmatching; Humans; Molecular Biology; Polymorphism, Single Nucleotide
PubMed: 29355136
DOI: 10.4103/ijmr.IJMR_914_16 -
Transfusion 1984
Review
Topics: Blood Group Antigens; Duffy Blood-Group System; Genotype; Humans; Isoantigens; Kell Blood-Group System; Phenotype; Publishing; Rh-Hr Blood-Group System; Terminology as Topic
PubMed: 6420952
DOI: 10.1046/j.1537-2995.1984.24184122554.x -
Glycoconjugate Journal Feb 1997The blood group antigens have been dismissed by some researchers as merely 'icing on the cake' of glycoprotein structures. The fact that there are no lethal mutations... (Review)
Review
The blood group antigens have been dismissed by some researchers as merely 'icing on the cake' of glycoprotein structures. The fact that there are no lethal mutations and individuals have been described lacking ABO, H and Lewis antigens seems to lend weight to the argument. This paper reviews the research which suggests that these antigens do indeed have function and argues that blood group antigens play important roles in modulation of protein activity, infection and cancer. It explores the evidence and poses questions as to the relevance and implications of the results.
Topics: ABO Blood-Group System; Blood Group Antigens; Carbohydrate Sequence; Communicable Diseases; Forecasting; Glycosyltransferases; Humans; Lewis Blood Group Antigens; Molecular Sequence Data; Neoplasms; Proteins
PubMed: 9111133
DOI: 10.1023/a:1018581503164 -
Current Opinion in Hematology Nov 1996In the past few years, we have learned a great deal about the biologic function of structures bearing blood group antigens. Some blood group antigen-bearing proteins... (Review)
Review
In the past few years, we have learned a great deal about the biologic function of structures bearing blood group antigens. Some blood group antigen-bearing proteins function as major transport channels within the erythrocyte membrane; these include the anion transporter (band 3: Diego and Wright antigens), the water channel (aquaporin: Colton antigens), and the urea transporter (Kidd antigens). At least two erythrocyte blood group antigen proteins have complement regulatory functions: the complement receptor type 1 (CR1, CD35: Knops antigens) and decay accelerating factor (DAF, CD55: Cromer antigens). Some blood group antigens reside on proteins with known receptor functions, such as the chemokine receptor (Duffy) and the hyaluronan receptor (Indian). The Cartwright antigens reside on an enzyme, acetylcholinesterase, and the Kell antigens reside on a protein that belongs to the CALLA-related family of neutral metalloproteinases. Finally, some blood group antigens reside on proteins that serve crucial structural functions necessary to normal erythrocyte lifespan and morphology. These proteins include band 3, glycophorins C/D (bearing the Gerbich antigens), and the Rh proteins. Both oligosaccharide and protein blood group antigens may act as receptors for bacterial, viral, and parasitic infectious agents.
Topics: Blood Group Antigens; Humans
PubMed: 9372120
DOI: 10.1097/00062752-199603060-00013 -
Nature Feb 1949
Topics: Blood Group Antigens; Lewis Blood Group Antigens
PubMed: 18109172
DOI: 10.1038/163254b0 -
APMIS : Acta Pathologica,... Jan 2000The introduction of immunohistochemical techniques and monoclonal antibodies to specific carbohydrate epitopes has made it possible to study in detail the tissue... (Review)
Review
The introduction of immunohistochemical techniques and monoclonal antibodies to specific carbohydrate epitopes has made it possible to study in detail the tissue distribution of histo-blood group antigens and related carbohydrate structures. The present paper summarizes the available data concerning the histological distribution of histo-blood group antigens and their precursor structures in normal human tissues. Studies performed have concentrated on carbohydrate antigens related to the ABO, Lewis, and TTn blood group systems, i.e. histo-blood group antigens carried by type 1, 2, and 3 chain carrier carbohydrate chains. Histo-blood group antigens are found in most epithelial tissues. Meanwhile, several factors influence the type, the amount, and the histological distribution of histoblood group antigens, i.e. the ABO, Lewis, and saliva-secretor type of the individual, and the cell- and tissue type. Oligosaccharides with blood-group specificity are synthesized by the stepwise action of specific gene-encoded glycosyltransferases. In general, this stepwise synthesis of histo-blood group antigens correlates with cellular differentiation. The H and the Se genes both encode an al-2fucosyltransferase, which is responsible for the synthesis of blood group antigen H from precursor disaccharides. A new model for the participation of the Se/H-gene-encoded glycosyl transferases in synthesis of terminal histo-blood group antigens in human tissues is proposed; the type and degree of differentiation rather than the embryologic origin determines whether it is the H or the Se gene-encoded transferases that influence expression of terminal histo-blood group antigens in tissues.
Topics: ABO Blood-Group System; Blood Group Antigens; Carbohydrate Sequence; Epithelium; Exocrine Glands; Female; Humans; Lewis Blood Group Antigens; Male; Tissue Distribution
PubMed: 10698081
DOI: 10.1034/j.1600-0463.2000.d01-1.x -
Biochimica Et Biophysica Acta Apr 1994Human erythrocyte blood group antigens can be broadly divided into carbohydrates and proteins. The carbohydrate-dependent antigens (e.g., ABH, Lewis, Ii, P1, P-related,... (Review)
Review
Human erythrocyte blood group antigens can be broadly divided into carbohydrates and proteins. The carbohydrate-dependent antigens (e.g., ABH, Lewis, Ii, P1, P-related, T and Tn) are covalently attached to proteins and/or sphingolipids, which are also widely distributed in body fluids, normal tissues and tumors. Blood group gene-specific glycosyltransferase regulate the synthesis of these antigens. Protein-dependent blood group antigens (e.g., MNSs, Gerbich, Rh, Kell, Duffy and Cromer-related) are carried on proteins, glycoproteins and proteins with glycosylphosphatidylinositol anchor. The functions of these molecules on human erythrocytes remain unknown; some of them may be involved in maintaining the erythrocyte shape. This review describes the distribution, structures and probable biological functions of some of these antigens in normal and pathological conditions.
Topics: Blood Group Antigens; Carbohydrate Sequence; Carbohydrates; Erythrocytes; Humans; Isoantigens; Molecular Sequence Data; Proteins
PubMed: 8155690
DOI: 10.1016/0304-4157(94)90017-5