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This group includes scientists, serologists and physicians with an emphasis in transfusion medicine. They have agreed to exchange, among the membership, samples that have rare blood group phenotypes, rare antibodies or other substances useful for the investigation of complex serological problems. In addition, these samples have been used to elucidate the biochemistry, molecular genetics and function of proteins carrying blood group factors. The Blood Groups The 26 known blood group systems and a description of each ISBT Human Blood Group Systems ISBT Number 001 002 003 004 005 006 007 008 009 010 011 012 013 014 015 016 017 018 019 020 021 022 023 024 025 026 Name ABO MNS P Rh Lutheran Kell Lewis Duffy Kidd Diego Cartwright XG Scianna Dombrock Colton Landsteiner-Wiener Chido/Rodgers Hh Kx Gerbich Cromer Knops Indian Ok Raph JMH Abbreviation ABO MNS P RH LU KEL LE FY JK DI YT XG SC DO CO LW CH/RG H XK GE CROM KN IN OK RAPH JMH
In addition to the various red cell membrane antigens that have been assigned to blood group systems there are antigens that await final assignment, if ever. There are indications that some of these antigens may belong together yet little or no indications have been given for others. To further organize the antigens for a systematic investigation and to eliminate duplication, the ISBT Working Party for Red Cell Surface Antigens has recommended that these be included into groups called collections and series. Collections The number of collections existent at any one time depend upon the information that is presently available. The antigens within the various collections have serological, biochemical and genetic relationship but do not fulfill a criteria for system status. Series These blood group antigens appear to be unique unto themselves. They are further subdivide into two groups 700 Series This is a group of red cell antigens that occur in less than 1% of most populations studied and are not known to belong to a blood group system. 901 Series This is a group of red cell antigens that occur in more than 90% of the population and are not known to belong to a blood group system.
It also appears on lymphocytes and platelets as it is adsorbed from the plasma. These transferases incorporate immunodominant sugars (GalNAc for A.3) galactosyltransferase (for B). type 1 is found in secretions. 14 A alleles. are group O.001 In 1900. plasma and some tissue) carried on glycosphingolipid or glycoprotein molecules. entities of one blood group system. For most of medicine this was considered a meaningless curiosity. It was 25 years before these groups were shown to be inherited as Mendelian characters by means of three allelomorphic genes A.ABO ISBT Number . in fact. The ABO antigens. . Gal for B) on to one of four different types of oligosaccharide chains (type 2 is predominant on red cells. AB and O and the blood group system know as ABO. Landsteiner observed that the red cells of some individuals were agglutinated by the serum of others and his detailed report a year later heralded the discovery of the first human blood groups. Alterations of ABH expression have been found in various forms of cancer. While various nomenclatures have been used to describe these factors. There is tremendous population diversity in the percentage of the ABO groups throughout the world. The ease of testing for the ABO blood groups contribute to the broad knowledge base of this blood group system. his pupils Von Decastello and Sturli discovered a fourth group in 1902. To date. Those individuals that have neither transferases. it was internationally decided in the mid-1940's that the characteristics would be individually identified as A. inheritors of two amorph genes. His limited experiments on laboratory colleagues demonstrated three distinct groups. 14 B alleles and 8 O alleles have been identified at the molecular level and more remain to be found. B. Since that time there have been billions of tests preformed and almost as many publications describing various aspects and associations of this blood group systems or its allelic products. B and O and were. Some individuals have weakened or variant expression of A and/or B which can be attributed to inheritance of variant forms of transferases. Furthermore. The antigens are also found on most epithelial and endothelial cells.Blood Group System . as stated above are not restricted to the red blood cell membrane but can be found in saliva and all body fluids except spinal fluid if the individual has inherited a secretor gene. The placement of the A and B antigens is dependent upon the existence of a substrate produced by the Hh blood group system (ISBT # 018). The genes controlling the ABO system are located on the long arm of chromosome 9 and encode for either an a (1-3) N-acetylgalactosaminyltransferase (for A) or a (1. but for those involved with the early development of transfusions it was quickly noted that transfusion of blood only of the same group could mean the difference between a successful outcome or a fatality.ABO Abbreviation . antigens of the ABO system may play a role in resistance to bacteria or viruses.
Antibodies against M are fairly common. followed shortly by the discovery of the product of its antithetical allele.MNS Abbreviation . glycophorin B. was identified. The MNS antigens are located on either glycophorin A. Ena) or.e. Even though anti–M antibodies are found in multiply transfused individuals and multiparous females. He. This system was the first non-water soluble blood group system to be biochemically investigated. being the most frequently found antibody in non-transfused children. Those that lack both glycophorin A and B are referred to as MkMk (there are no detectable MNS antigens on these individuals' red cells). Landsteiner and Levine immunized rabbits with human red blood cells. These studies led them. s. As with most blood group systems. Landsteiner and Levine’s discovery prompted them to test apes with antisera prepared by immunizing rabbits with human M blood. S. It was twenty years before the third antigen of the group. . Those that lack glycophorin A but have a normal glycophorin B are En(a-) individuals and those that have glycophorin A but lack glycophorin B are S-s-U. U.e. By selective immunization and absorption.MNS ISBT Number .individuals. conversely.Blood Group System . several newly discovered blood group antigens were found to be associated with this system. hybrid or mutant structures of both of these sialoglycoproteins which are encoded by two highly homologous and closely linked genes on the long arm of chromosome 4. Many of the low incidence antigens associated with hybrid structures could only have been assigned to this system through biochemical and DNA investigation. to immunized rabbits with rhesus monkey blood in order to prepare anti-M reagents. In a deliberate attempt to discover more blood group antigens. out of forty-one sera four were found to have a distinctive agglutinin that reacted independent of the then know ABO blood group types. low incidence antigens (i. Refer to the Rh blood group system and LW blood group system for their discovery. this system has its "null" individuals. Antibodies against S. Mg. s and the majority of the remaining high and low incidence MNS antigens have been associated with hemolytic transfusion reactions and hemolytic disease of the newborn. etc). Interestingly. The discovery and elucidation of inheritance was one of the most brilliant achievements in this field of biology. Because of this system's usefulness in testing inheritance within pedigrees. the serological specificities and inheritance of M and N were described. The MNS antigens are found predominately on the red cells with some found on the renal endothelium and epithelium. some being high incidence antigens (i. however antibodies against N are exceedingly rare (undoubtedly because N can be encoded by some forms of glycophorin A when the N gene is present and the most common form of glycophorin B). Mta. more frequently. it rarely if ever is associated with hemolysis of red cells.002 MNS was the second blood group system to be discovered (1927). To date there have been over 43 antigens associated with this blood group system.
require the specific Ii antigens.Blood Group System .P Abbreviation . parvovirus B19. many of the antibodies to P system antigens result from immune response to other organisms. and -iP. -Tja. a biphasic hemolysin.P ISBT Number . has been shown to have P specificity. a number of related antibodies have been identified. The Donath-Landsteiner antibody. such as anti-IP1. the p phenotype is found more frequently in the Amish population . In healthy children. another virus. parvovirus B19 infection manifests itself with a malar rash while adult infection results in a mild flu-like illness. Recently. P system antigens are formed by the addition of carbohydrates to the fatty acid chain of sphingolipids. has been associated with the P blood group system. The biochemical nature of the antigens of the P blood group has been well defined. has been thought to be such a response. In adults. The rare phenotype for this system is known as p [formerly Tj(a-)]. Soon after the discovery of this phenotype it was noted that the naturally occurring antibodies in p females were a cause of early abortion. Most of these antibodies are cold-reactive and thus are of little significance in transfusion. Since the resulting discovery of anti-P1.003 The P blood group was identified by Landsteiner and Levine after they deliberately inoculated rabbits with human red cells in order to find new blood group factors. found in cases of paroxysmal cold hemoglobinuria. -iP1. It has been postulated that both the virus and spirochete carried a P-like carbohydrate structure that stimulates the autoantibody production. Some other antibodies. Because of the wide distribution of these antigens in nature. -Pk. The Donath-Landsteiner antibody. including anti-P. in combination with P antigens. the DonathLandsteiner antibody may appear in transient association with syphilis. Interestingly. and -Luke (LKE). The persons at greatest risk of developing complications due to B19 are those with sickle cell disease and thalassemia. Many cases of paroxysmal cold hemoglobinuria (PCH) in children are preceded by a flu-like illness or respiratory infection and are thought to be viral in nature.
in hematological testing the extremely rare (only 32 known throughout the world) individuals who have no detectable Rh antigens. RhAG and glycophorin B. The Rh antigens are encoded by two highly homologous and closely linked genes on the short arm of chromosome 1. The RHD gene producing the D antigen. The most clinical important antigen. and have not been found on other body tissues. or most of its components. . was the first discovered in 1940 and has been generally referred to as the Rh antigen. point mutations or deletions within one or both genes. Mutations of the RhAG gene accounts for most examples of Rhnull It is truly ironic that this blood group system received this name because it was originally thought to be similar to an antibody produced in rabbits that had been immunized with rhesus monkey cells. and the similar human antibody specificities. RhCE gene producing the Cc and Ee antigens or their variants. D or Rho.004 Rh is the most complex of the blood groups systems. being present in over 85% of the random population. Rhnull cells exhibit stomatocytosis and spherocytosis. Those individuals that lack the D antigen are considered to be Rh negative. Hence. The majority of the antigens within this system represent products of gene cross-over.RH ISBT Number . The importance of the Rh antigens in the erythroid membrane is exemplified by the fact that in many examples of auto-immune hemolytic anemia. a shortened red cell survival is quite common. auto-Rh antibodies are frequently found. the absence or presence of which combine to exhibit an individual's Rh blood group type. A current model suggests that Rh assembles in the membrane as a complex with CD47. Rhnull individuals. embracing over 45 distinct antigens.Rh Abbreviation . have been named after the two original investigators. there is no association with rhesus monkeys what so ever. Landsteiner and Wiener (refer to LW blood group system). but in fact. Moreover. The Rh antigens appear to be red cell specific. That antibody produced in rabbits to rhesus monkey cells. Antibodies against the Rh antigens have caused severe and fatal transfusion reactions and hemolytic disease of the newborn. the rhesus association to the system name had been made. LW. By the time it was scientifically proven that they were two distinct antibody specificities there were too many publications referring to the Rh factor as the product of the D gene and the symbol Rh was well entrenched for this blood group system. appearing early during development of red blood cells.Blood Group System . and have increased permeability to potassium suggesting that they lack a crucial membrane component.
also presents with weakened Lu antigens similar to the inhibitor type. Cutbush and Chanarin described anti-Lub.LU ISBT Number . however.005 The Lutheran blood group was initially described in 1945 when the first example of anti-Lua was discovered in the serum of a patient following transfusion of a unit of blood carrying the corresponding low frequency antigen. In 1956. Lu6 and Lu9. A dominant inhibitor gene. Lu and B-CAM (basel cell adhesion molecule) are different forms of the same protein/gene whose function is to bind/aminin. Less than a half dozen individuals with this type are known. In(Lu). Aua (Lu18) and Aub (Lu19). due to an X-linked suppresser gene (XS2). The Lutheran blood group system. Aua. These individuals have mild acanthocytosis and poikilocytosis of their red cells. Lu8 and Lu14. The Lu(a-b-) phenotype or Lunull is very rare and may rise from one of the three distinct genetic circumstances. The red cells appear to lack all Lutheran antigens using hemagglutination techniques. P1. The Lu protein has a molecular weight of 85 kD and is composed of 5 extracellular Ig. A second Lunull type is due to the homozygous inheritance of an amorph at the Lutheran locus. now consists of 18 antigens. which is independent of the Lutheran locus. This is probably the true Lunull as no Lu antigens have been detected on the red cells even using absorption/elution techniques. Luteran. The new antibody was named Lutheran. their presence can be demonstrated by absorption/elution methods.Lutheran Abbreviation .Blood Group System .like domains. The final Lu(a-b-) type. including four allelic pairs: Lua (Lu1) and Lub (Lu2). is responsible for the most common form of the Lu(a-b-) phenotype. however. . a misinterpretation of the patient's name. which defined the high frequency antithetical partner. only one such family has been found to date. The In(Lu) gene not only suppresses Lutheran but also the i. Anton (An/Wj) and several other antigens defined by monoclonal antibodies.
the Jsa antigen is most frequently found in those of African descent and the Kpc antigen has been more frequently found in Japanese). Interestingly. In nonerythroid tissues. has normal discocytes. several having been shown to be products of allelic genes. in addition to a unique red blood cell morphology. is glycosolated at five sites and functions as a metalloprotease. acanthocytes. which by definition have no Kell blood group antigens. As with most systems. They are located on a 93 kDa type II glycoprotein that makes a single pass through the membrane. The system's clinical importance was obvious from the first case: an example of hemolytic disease of the newborn. as with several other systems. has examples of "depressed phenotypes" and "null phenotypes". more antigens have been found that were proven by inheritance to be of the Kell blood group system. the "null phenotype" cells.Blood Group System . . The McLeod phenotype (first detected during the investigation of the cells of a Dr. This system. The Kell antigen appears to be found on erythroid and nonerythroid tissue (primarily in testis). one of which is X-borne (see Kx). over the years.006 The first Kell system antibody was described in 1946. At present it is a system comprised of 22 blood group antigens. McLeod) have suppression of all inherited Kell blood group antigens. as exemplified by skeletal muscle.KEL ISBT Number . referred to as Ko. All of this was very suggestive of a chromosome location that might have three or more regions with mutation points. Kell is disulfide-linked to XK.Kell Abbreviation . Some of the antigens have also shown a distinct racial prevalence (K antigen is more frequently found in Northern European. shortly after the implementation of the use of the then recently described rabbit anti-human globulin reagent. The Kell antigens are encoded by a chromosomal location on the long arm of chromosome 7. both from the Kell locus and from at least two regulatory genes. The expression of the Kell genes is modified by epistatic effects.
Lewis system antibodies are some of the most frequently encountered in pretransfusion or pre-natal screening. antibodies raised to cancer cells often have specificity within the Lewis blood group. reported that the bacteria Helicobacter pylori used the fucose sugar found in the Leb antigen as a receptor to establish infection. . In Blacks the Le(a-b-) type occurs with a frequency of 20-25% as compared to 5% in Caucasians. The antigens of the Lewis system are carbohydrate (sugar) determinants carried either on proteins or lipids. the majority of the biochemical studies have been performed on Lewis substances isolated from plasma or saliva. Boren et al. Le(a-b+) and Le(a-b-).007 The first description of an antibody in the Lewis system was published in 1946 by Mourant. the three major phenotypes are Le(a+b-). Generally in both Caucasians and Blacks. These arise through the interaction of two genes. peptic ulcers and gastric carcinoma. Several studies suggest that transplant patients having the Le(a-b-) phenotype have shorter transplant survival times than those who have a Lewis gene. In 1993.LE ISBT Number . Anti-Lea is the most frequent antibody in the Lewis system. red blood cells from newborns will type as Le(a-b-) regardless of their genetic makeup as the cells have not had time to absorb Lewis antigens from the plasma. Interestingly. Anti-Leb exists in two forms: one reacts only with Le(b+) cells of the A2 or O type (anti-LebH) while the other reacts with all Le(b+) cell regardless of ABO type. If a Lewis gene is present the donor will be either Le(a+b-) or Le(a-b+). ie.Blood Group System . Another type which is extremely rare in Caucasians and Blacks. Le(a+b+). Furthermore. Although they were first detected on red cells. pylori has been implicated as the causative agent in gastritis.Lewis Abbreviation . H.Lewis and secretor. however. is found in the Oriental population and appears to be due to a weak secretor gene. if there is no Lewis gene the red cells type as Le(a-b-). is often naturally occurring and is of the IgM class.
Studies have shown that blacks whose erythrocytes express Fyb antigen also have the antigen on the cells of their kidney. This phenotype is exceedingly rare in Whites.Duffy Abbreviation .Blood Group System . The absence of Duffy antigens on erythrocytes results in their resistance to invasion by two malaria parasites. the Duffy blood group was named for the multiply transfused hemophiliac whose serum contained the first example of anti-Fya. The Duffy genes. heart. The Duffy gene codes for a protein known as a chemokine receptor. and Fy(a-b+). brain and placenta.008 In 1950.FY ISBT Number . Fy(a+b-). In 1951. . Using these antibodies three common phenotypes were defined: Fy(a+b+). The frequency of the Fy(a-b-) phenotype is 68 percent in American Blacks and 88-100 percent in African Blacks. Fyb. which is important in the inflammatory process. The molecular basis for the Fy(c-b-) phenotype is the result of a point mutation in the erythroid specific promoter. located on chromosome one at position 1922-23. The difference between Fya and Fyb is a change in the amino acid at position 43 from aspartic acid (Fya) to glycine (Fyb). was discovered in the serum of a woman who had been pregnant three times. Plasmodium vivax and Plasmodium knowlesi. have recently been cloned and sequenced. the antibody to the antithetical antigen. Accordingly. the Fy protein is also known as DARC (Duffy Antigen Receptor for Chenokines). muscle. Differences in the racial distribution of the Duffy antigens were discovered four years later when it was reported that the majority of Blacks had the erythrocyte phenotype Fy(a-b-). This racial variation in distribution of the Duffy system antigens provides one of the few known examples of selective advantage conferred by a blood group phenotype.
it was given the name Jka. Mrs. changing Asp to Asn. Other populations reporting this phenotype include tribes from Mato Grasso. The molecular basis for Jknull has been shown to be splice-site and misense mutations. the antibody was renamed anti-Jk3 which recognizes an antigen found whenever Jka or Jkb is present. Kidd. The first example of the Jk(a-b-) phenotype was found in a woman who experienced a delayed transfusion reaction. Jk(a-b-). the first example of a Kidd antibody was reported in 1951.009 Shortly after the development of the antiglobulin test for the detection of red cell antibodies. was described who produced an antibody that caused hemolytic disease in her newborn son. the allele was found by Plaut and designated Jkb. Since these first reports. Soon afterwards. many such individuals of Asian or Polynesian extraction have been identified. The Jka/Jkb polymorphism is a A8386 base pair change at amino acid 280. A patient. an Australian and a Finnish family.9%) Jk(a-b-) donors among 7425 tested. i.Blood Group System . the Jk(a-b-) red cells were shown to be resistant to lysis in high concentrations of urea as opposed to normal cells that completely lyze in ~1 minute. Since the specificities were inseparable. . In 1959. One study found a total of 66 (0. Interestingly. This observation led to biochemical studies which identified the Kidd antigens on the urea transport protein which is found not only in red blood cells but also in the kidney.. the first example of the null phenotype.Kidd Abbreviation .JK ISBT Number .e. all were of Polynesian backgrounds. The Jk(a-b-) phenotype is strikingly absent from Caucasians although rare cases have been found in a French. Brasil. One study of individuals with the Jk(a-b-) phenotype has reported that they have a decreased ability to concentrate urine but this does not appear to cause a health problem. To date. Hindus from India and Japanese blood donors. was founnd in a woman who had produced an antibody that appeared to be anti-Jka plus anti-Jkb. no low frequency antigens have been associated with the Kidd blood group. She was a Filipino of some Chinese and Spanish ancestry. as well as a partial gene deletion. After determining that the new antigen was independent of the other thenknown blood groups. Another family of Filipino-Chinese ancestry was reported that contained three Jk(a-b-) members.
This led to the recognition that Dia was a useful marker for persons of Mongolian descent while being of very low frequency in other populations. The family was Caucasian but there appeared to be Native American admixture. The frequency in Native Americans ranges from 2-36% while 310% of Orientals are positive. Wulfsberg. The system quickly expanded when other antigens of low frequency were also identified on band 3 including: ELO. Waldner. Warrior. Redelberger. the anion exchange protein (AE1). There has been only one report of the Di(a-b-) phenotype.Blood Group System .010 The first example of anti-Dia was discovered in Venezuela in 1956.DI ISBT Number . Antibodies to Wra are frequently found in patients having autoimmune hemolytic anemia or individuals having a positive direct antiglobulin test. Dib and the Wright antigens (Wra and Wrb) were determined to be amino acid substitutions on band 3. Bishop. VanVugt. . Traversu. Hughes and Moen. Anti-Dib was not recognized until 1967 when two examples were reported in two Mexican women that were being transfused.Diego Abbreviation . The Diego system remained a two antigen system until the 1990s when Dia. No red cell lacking band 3 has been reported for this system which may indicate that its loss is lethal. as a cause of hemolytic disease of the newborn.
Amer-Indians and southern Africans. respectively. at amino acid position 322 on the GPI-linked glycoprotein.011 The first Yt (also known as Cartwright) blood group system antigen.Cartwright Abbreviation . ie. Ytb. In 1964. Yta and Ytb. it was found that the Yt blood group system antigens represented amino acid substitutions on the GPI-linked glycoprotein.Blood Group System . Ytb appeared to be lacking. Antibodies to these antigens were implicated in cases of delayed transfusion reactions but were not reported to have caused hemolytic disease of the newborn.YT ISBT Number . however in a slightly lower expression level than seen on adult cells. No examples of Yt(a-b-) individuals have been found despite numerous studies. This latter discovery raised the stature of the Yt system. They were shown to be resistant to trypsin treatment. there have been only two antigens associated with this system. Giles and Metaxas reported the first example of an antibody that detected the product of the expected antithetical allele. From population studies. was described 1956 by Eaton et al. This protein probably exists as a dimer (pair) in the red cell membrane. but sensitive to other protein cleaving enzymes. Yta was found lacking in approximately one per thousand individuals of European origin. which then became a chromosome marker of about the same potential usefulness as the Lutheran system. Based on the present knowledge of the placement on AChE. Yta and Ytb are equated to substitutions of a hisitidine and asparagine. acetylcholinesterase (AchE). The two antigens of the Yt system. it is far more likely that any new variants will be found investigating AChE peculiarities and their immune response than by standard serological methods. This blood group antigen was proven to be inherited as a dominant character and independent from the other know systems at that time. AChE has been assigned a chromosome location at 7q22. As of this date. With a rush of activity in the early 1990's. are both expressed at birth. or of very low incidence. This system remained unexciting until it was found that both of these antigens were weak or absent from paroxysmal nocturnal hemoglobinuria (PNH) III red blood cells. from Orientals. . Yta.
Blood Group System .000 molecular weight sialoglycoprotein. most of the antibody producers have been males. In other words. Since these two proteins may associate with each other in the red cell membrane. The Xg antigen is well developed at birth although cord blood cells may give weaker reactions than adult cells. Biochemical analyses have shown that the Xga antigen is located on a 27. Thus. This protein is encoded for by a gene on the X chromosome at position Xp22-32. however. No disease association has been found with a particular Xg phenotype. The Xg system. They found that the CD99 antigen also showed variable expression which appeared to be related to sex. Goodfellow and Tippett have observed an interesting association between the Xga antigen and CD99. CD99 low expressors. Although there are Xg(a-). this new antigen was named Xga as it appeared to be controlled by the X (sex) chromosome. no "null phenotype" has yet to be found.012 In 1962. The Xg locus is one of the few genes on the X chromosome that are not subject to Lyonization. Curiously. the null would presumably lack both the Xg and CD99 proteins. And) that seemed to be associated with the sex of the donor red cells. ie.XG Abbreviation . random "switching off" in females of one of the X genes. Individuals who are high expressors of CD99 are Xg(a+). the antigen frequency differed between males (XY) and females (XX) of the same race. Mann reported an antibody which he found in the serum of a multiply transfused Caucasian male (Mr. . is unusual in that no other antigens have been identified to date.XG ISBT Number .
Scianna Abbreviation . a high frequency antigen found on all cells except the extremely rare individuals that type Sc:-1. The antigens are located on a glycoprotein containing disulfide bonds and an N-glycan. and the antibodies were mutually incompatible. The antibodies against the Scianna antigens have been associated with mild to delayed transfusion reactions and mild hemolytic disease of the newborn.SC ISBT Number . Second is Sc2. The incidence of Sc:1. described by Anderson et al. reported the original Smcells were Bu(a+) and suggested they be renamed Sc1 and Sc2 following conformation that they were the products of alleles.Blood Group System . To date. the low incidence antigen Radin. The frequency of Sc2 is about 1% of Northern Europeans but the frequency is much lower in other populations. it was found while working with a sample of a patient from the Marshall Islands.2 is more common in Mennonites. . The first is Sc1. An example of possible expansion is the report of three Sc:1. This antigen was originally described by Schmidt et al. It is suspected that the Scianna blood group system could become as complex as some of the other blood groups. the antigens have only been found on erythroid cell lines.013 There are three antigens within the Scianna blood group system recognized by the International Society of Blood Transfusion (ISBT) Working Party on Terminology for Red Cell Surface Antigens. This is suggestive that there may be three more high incidence antigens within this system. known as the Scianna glycoprotein (function unknown).2-p22. The Scianna antigens are encoded by a gene whose chromosomal location is on the short arm of chromosome 1 between 1p36. a high frequency antigen found in greater than 99 % of most populations.-2 phenotype has been found most frequently (when found at all) amongst individuals native of the South Pacific Islands. in 1963 and named Bua. Some unique antibodies have been found that hint of an association with Scianna but lack the complete research necessary to qualify for blood group assignment. Lewis et al.-2 red blood cells. The third antigen is Sc3.-2.1.-2 phenotype (the null phenotype ) do not appear to have any associated red cell membrane defect or anemia. In addition. Reported by McCreary in 1973. as a selected population. Individuals of the rare Sc:-1.-2 individuals that produced allo-antibodies that failed to react with Sc:-1. The Sc:-1. in 1962 and named Sm. may be a part of the Scianna system but is not an allele of Sc1 and Sc2.
These blood group antigens are carried on a glycosylphosphatidylinositol (GPI)-linked glycoprotein. reactive with 64% of the Caucasian population. at that time. . Ironically. yet to be discovered any association with Doa and Gya could not be deduced. when Banks et al. The Dombrock system remained a simple two allele system until 1992. It was not until 1972 that Molthan et al.Dombrock Abbreviation .014 The first example of anti-Doa. in 1965. the Dombrock blood group system was defined and was estimated to be the fifth most useful blood group marker in Caucasians. Dombrock system antigens Doa and Dob appear to be poor stimulis and most examples of both antibodies rarely are found as a single specificity in a serum. are notorious for disappearing in vivo. limited examples of both antibodies greatly restricted broad investigations. and when detected.DO ISBT Number . Consequently. Interestingly.Blood Group System . reported the antithetical antibody anti-Dob. Antibodies within this system have been associated with weak to moderate transfusion reactions. However. was reported by Swanson et al. Thus. but not with clinically defined cases of hemolytic disease of the newborn. Swanson reported the first examples of both anti-Doa (in 1965) and anti-Gya (1967) but as anti-Dob was. these three high incidences blood factors were included within the system. reported that the red cells of the rare Gy(a-) Hy(a-) Jo(a-) individuals were also Do(a-b-). but as of this date this system has not been associated with a defined chromosomal location. it had already been known that all Gy(a-) red cells lacked both Hya and Joa antigens and that Hy(a-) red cells lacked Joa antigens.
000 and the baby was supported by intrauterine and post-delivery maternal transfusions. There is a branched rod-like structure within the cylinder that transverses the membrane and likely contains a least one a -helix. Heisto et al. Antibodies to the Colton antigens have caused both mild and moderate hemolytic transfusion reactions and mild hemolytic disease of the newborn.Colton Abbreviation . (1978) had reported the possibility of a rare silent allele from separate family studies. present on all cells having either Colton allele. CHIP-1 is a product of the AQPI (Aquaporin-1) gene located on the short arm of chromosome 7 at 7p14. (1994) and Preston et al. except in one severe case due to anti-Co3. through a series of excellent studies by Agre et al. Coa is present on the red cells in 99. (1973) and Swanson et al. like the Lutheran blood group system. Colton had been of limited clinical interest except for suggestions of linkage with monosomy 7. Moulds et al. Thus. Then. Smith et al. this indicated a third antigen. weaker expression with certain chromosomal 7 rearrangements and congenital dyserythropoietic anemia.CO ISBT Number . was reported by Rogers et al.9 % of most populations. However. identified the antithetical antibody. In 1967. Giles et al. a deletion of exon 1 and a Leu38 (instead of a Pro38) causing a stop. Investigation of blood from three unrelated Co (a-b-) individuals revealed that the serological aberration was due to three separate causes: a frame shift after Gly104. (Unfortunately. Co3. anti-Cob. The CHIP-1 protein (hence the Colton blood group antigens) is located on a variety of surfaces including epithelia. reported three examples of a similar antibody against a high frequency antigen they named Coa (Colton) after one of the antibody producers. the anticipated "null" phenotype. has remained a relatively uncomplicated system. Cob is present in 8 to 10 % of Northern Europeans with much lower incidence in other populations.015 The Colton blood group system. respectively. in 1974 and Conull cells have reduced water permeability. the Co(a-b-) individuals do not appear to have any health related problems related to the loss of this protein. This 269 amino acid membrane glycoprotein has six a -helices forming a trapezoid-like cylinder. In this case the antibody titer was greater than 32. Colton antigens were found to be located on the channel forming integral protein (CHIP-1). the authors misread the name of the individual chosen. in 1970. with a slightly lower incidence in Northern Europeans. The Co (a-b-) phenotype. descending tubules and apical surfaces of proximal tubules in addition to red blood cells. Alternatively. These three individuals lacked or had a very low amount of CHIP-1. An amino acid change of Ala45 to Val45 represents the difference between Coa and Cob.Blood Group System . The function of this protein is essentially a regulated water channel through the membrane. (1994). (1991). The location of Co3 on CHIP-1 is unknown. endothelium. . and the blood group system was established. as the original individual's name was in-fact Calton). As a blood group system.. despite the knowledge known about its genetics and biochemistry. This made the system somewhat similar to other systems known at that time in that the "null phenotype" individual had produced an antibody of a single specificity that reacted with cells of all Colton phenotypes except Co (a-b-).
Because further work suggested that the Nea gene was allelic to LW. 21 amino acids spanning the membrane and 12 amino acids inside the membrane. Consequently. There are several sites for the attachment of carbohydrate complexes.016 Landsteiner and Wiener used blood from a monkey (Macacus rhesus) to immunize rabbits and guinea pigs in order to define new antibody specificities.Blood Group System . Investigations of red cell membrane proteins using both human and murine monoclonal antibodies have shown that these antigens are carried on a 40. Following further studies by Levine the "D-like" name was changed to LW in honor of Landsteiner and Wiener. eg.000 molecular weight glycoprotein. as early as 1942 it was known that the rabbit/guinea pig and human antibodies could not be the same. .Landsteiner-Wiener Abbreviation . The guinea pig antibody was given the name "D-like". Rh+ red cells express LW more strongly than Rh negative cells. Some (but not all) examples have been associated with terminal illnesses such as Hodgkin's disease. The early nomenclature tried to accommodate this observation by using a numerical system. One of the antibodies they produced appeared to have the same specificity as a human antibody found in several woman who had stillborn fetuses. LW1. A transient or acquired form of LW(a-b-) has been reported and these individuals are found because they produce a transient anti-LW. Then Race and Sanger found two women whose antibodies could be absorbed by Rh negative red cells and which appeared to be similar to the "D-like" antibody from animals. the null phenotype for this system would be LW(a-b-) which is extremely rare and is the result of a partial gene deletion. The LW glycoprotein is a member of the immunoglobulin gene superfamily and is also known as ICAM-Y. sarcomas or other malignancies. they were renamed LWa and LWb (Nea). When the guinea pig antibody was used to test Rh+ and Rh negative cord blood cells (as defined by the human antibody) all samples were reactive. leukemia. LW2. the antibodies were named anti-Rh for rhesus. Thus. However. The cDNA work has revealed that the LW protein contains 208 extracellular amino acids. etc. Today the LW and D antigens still remain related. but this changed following Sistonen's report of a new low frequency antigen called Nea which was found in ~5% of Finns.LW ISBT Number .
in 1978 the association became clear when it was shown that both Chido (Ch) and Rodgers (Rg) were epitopes carried on the fourth component of complement (C4).B8 phenotype. When the first several antibody producers were HLA typed. an increased frequency of null alleles (lacking the protein) for C4A or C4B have been associated with some autoimmune disease such as systemic lupus erythematosus (SLE). The rare C4-deficient phenotype in this system is both Ch and Rg negative and lacks both C4A and C4B in the plasma. the two Rg antigens and a third antigen known as WH were identified at the molecular level by Yung Yu and Carolyn Giles. However. The antibody was officially reported in 1967 and named after one of the early patients. The amino acid changes which code for the 6 known Ch antigens. Today approximately 30 different forms of C4A and C4B have been identified and studied worldwide. The C4 protein can exist in two forms known as C4A and C4B which have some functional differences related to amino acid changes. Six other examples were identified in 1964 and 1965. human plasma was able to inhibit both of these antibodies.017 The first example of anti-Chido was studied both in Minneapolis and London in 1962. Approximately 2% of the population will completely lack either C4A (Rg negative) or C4B (Ch negative) and appear to be healthy. . Nine years later a similar and related antibody was described. Only about 20 such individuals have been reported in the literature and many of them have had SLE. In addition. ie. anti-Rodgers. Initially it was believed that these might be white cell or HLA antibodies. The genes for C4 are closely linked to the HLA genes. it was found that they all had the HLA-A1.Chido/Rodgers Abbreviation .CH/RG ISBT Number . Finally.Blood Group System .
Without this structure the A and B gene products have no foundation to build upon and no A or B antigen can be made. Subsequently. a number of examples have been found in India over the years.Blood Group System . the H antigen is made by the related gene FUT2 and is known as the secretor (Se) gene. They found that the corresponding genes code for carbohydrate (sugar) transferases which are added in a stepwise manner to a backbone protein or lipid. We now know that the Bombay phenotype is due to a recessive gene at the H locus. This gene product is important for the formation of Lewis antigens which are later absorbed onto the red blood cell. In 20-30% of patients diagnosed with acute leukemia. Early suggestions were that this type was due to a new allele at the ABO locus. B or H antigens.O. This null phenotype was named "Bombay" after the city where it was found. there will be a depression of the A.B. . A mutation at position 316 from a tyrosine to a stop codon leads to the Oh phenotype.H ISBT Number .2) fucosyl transferase which must first put a fucose in place before the A or B specific transferases can act. Although the Bombay phenotype is extremely rare in most populations. This is because their serum contains a potent anti-H antibody.018 The history and biochemical nature of the H antigen is entangled with that of the ABO and Lewis blood group systems. H and Lewis antigens came from the laborious work of Kabat.Hh Abbreviation . Morgan and Watkins. ie. Serum Htransferase level is reduced in patients having acute myelogenous leukemia but is increased in those with chronic granulocytic leukemia. The recognition of the Hh blood group probably begins with the discovery by Bhende et al. Patients with the Bombay phenotype can have severe transfusion reactions if transfused with "normal" group O blood.B and H antigens have been associated with disease states. Persons with the rare Bombay phenotype do not have the H gene and hence cannot make the fucosyl (H) transferase. intermediate form of the H gene have been found and these individuals are called "para-Bombays". Changes in A. Understanding of the biochemical nature of the A. (1952) of the first three individuals who completely lacked A and B antigens but were not group O. The H gene is a alpha (1. The gene that makes the fucosyl transferase is called FUT1 and is located on chromosome 19 at q13. h and is therefore referred to as Oh. but others suggested an inhibitor gene and finally the possibility of a genetically independent but related gene. In secretions such as saliva and tears.
Since the McLeod phenotype was found in males and could be further associated with the X-linked disease chronic granulomatous disease. the null phenotype for the Kell system (Ko) has increased amounts of Kx leading early investigators to suggest that Kx was a precursor substrate for the Kell genes to act upon. In addition to the McLeod association. The McLeod phenotype has both weakened Kell as well as Kx antigens and occurs in males.Kx Abbreviation . adult skeletal muscle. elevated serum creatine phosphokinase and acanthocytic red blood cells. XK is an approximate 440-amino acid protein that is predicted to traverse the membrane 10 times. brain and heart. recent studies suggest that Kx may act as a chaperone or transport protein. Hence the designation Xk.000 molecular weight and is predicted to span the membrane 10 times. The Kell glycoprotein co-precipitated with Kx when immunoprecipitation studies were performed in order to isolate the Kx protein. The specific chromosomal location is Xp21. The same holds true for the Kx system. it was relatively easy to assign this gene to the sex chromosome (X).Blood Group System . This relationship was discovered when the McLeod phenotype was first found.XK ISBT Number . a linkage site close to the membrane surface. The Xk gene encodes a protein of 37. indeed. The XK Cys346 is disulfide-linked to Kell Cys72.019 Several of the blood group systems have a relationship with another system. which is associated with the Kell system. This suggested that there might be a functional association. Kx can be phosphorylated invitro and this may be a regulatory mechanism for the protein. It is widely expressed in the body occurring in the fetal liver. The red cell phenotype is only one aspect of a syndrome now known as the McLeod syndrome which includes a variety of muscular and neurological defects.1. e.g. . pancreas. ABO and H or Rh and LW.
Serology contributed to their discovery but could not resolve the group relationships of one antigen to another. In addition. in addition to being elliptocytic. The Leach phenotype (less than 10 known through out the world) arises from either of two types of gene mutations. (1984) reported serological tests of such an antibody and described the extremely rare "Leach phenotype". It has been suggested that the high incidence of the Ge-negative phenotype in Melanesians may be related to the high prevalence of malaria in Northern New Guinea. band 4. Using immunoblotting techniques. the null phenotype for the Gerbich system. Glycophorin C and D.1 deficient red cells (which is associated with hereditary elliptocytosis).Blood Group System . This supported previous red cell membrane studies that had indicated that Ge antigens were located on Glycophorin C and/or D. . specifically Plasmodium falciparum. products of a single gene located on the long arm of chromosome 2 (2q14q21) are single-pass membrane sialoglycoproteins. Rosenfield et al. there appeared to be at least three subdivisions of the high incidence antigens within the Gerbich group. Testing monoclonal antibodies to red cells membranes revealed some which were non-reactive with Ge. either a 2kb deletion in exons 3-4 or a frameshift causing a premature stop codon. similiarly. the Ge group was shown to be subdivisible into at least two sets.1 and p55 form a ternary complex which is critical for the red cell stability. They may function in membrane integrity and interact with protein 4. as has been found in other systems. The various antigens of the Gerbich system are associated with amino acid substitutions on Glycophorin C and/or D. Red cells with the Leach phenotype have reduced in vitro invasion by malaria parasites.cells (both sets) and 15% of the Ge+ Melanesians. Despite numerous serological tests of Ge.020 The Gerbich blood group system. The red cells of this individual where found to lack Glycophorin C and D. owes its definition to the membrane protein chemists than to the serologists.1. ie. GP C/D. Cleghorn (1961) found that the anti-Ge producing patient reported by Barnes and Lewis (1961) was serologically reactive with the serum of one of the original three reported by Rosenfield et al. other antibodies against low incidence factors were located on these glycophorins. The system now contains seven antigens of which the majority were included in the system by molecular or biochemical studies. At this point. described three examples of an antibody reactive with a high incidence antigen they named Gerbich (Ge) after one of the first individuals.red cells.individuals and their families little was resolved except that these factors appeared to be unrelated to any of the other known blood groups systems.GE ISBT Number .Gerbich Abbreviation . Thus soon after its description. more than most others. In 1960. None of the presently known Gerbich systems antigens appear to be products of allelic genes. they are markedly reduced in protein 4. Antibodies to the Gerbich antigens have been associated with transfusion reactions and mild hemolytic disease of the newborn. Anstee et al. Booth and McLoughlin (1972) added further complexities to this quandary when they reported that some Melanesians of Papua New Guinea had an antibody non-reactive with all Ge.
To date. Several examples of Dr(a-) have been found almost exclusively in Israeli Jews originating from the Bukharan area of Uzbekistan. The DAF protein was well known to scientists studying complement. ie. Individuals who acquire a deficiency of DAF on their red blood cells develop an anemia known as paroxysmal nocturnal hemoglobinuria (PNH). ten years later Stroup and McCreary reported four additional examples of the antibody and demonstrated that it could not be part of the Rh system and was not anti-Gob. Today. another low incidence partner was found which was named Tcc.021 In 1965 McCormick. ie. Additional antigens and antibodies were soon discovered for this system. Thus the antibody was renamed anti-Cromer (Cra) after the first antibody producer. It appears that the bacteria uses the DAF protein for attachment to the cell lining in order to establish infection. extremely rare individuals have an inherited form of DAF deficiency.Blood Group System . The biochemical structure and functional significance of the Cromer blood group came to light when it was shown that these antigens are carried on a protein known as "decay accelerating factor" (DAF). its low frequency partner was found in 5% of Blacks but not in Caucasians. . Cra is due to a G-C change in SCR4 leading to an ala193pro substitution. to the lining of the urinary tract. some of which showed distinct ethnic differences. Escherichia coli. the majority of these antibodies have been found in Blacks and are often stimulated by pregnancy. Most of the other Cromer system antigens have been found in SCR1 at the DAF protein. In the later group. a group of proteins important in inflammation. the Dra antigens carried on DAF play a unique role in the binding of a bacteria. A new antibody related to Cromer was reported by Levene and named anti-Dra. Interestingly. Since the patient's red cells typed as Go(a+) they believed the antibody was anti-Gob. Indeed. DAF is a regulatory protein which controls several of the complement components known as the C3 convertase. However. The antibody to the high frequency antigen known as Tca was first found in two Black females. all of the different Cromer/DAF genes have been cloned and the exact mutations identified. This is know as the "Inab" phenotype and these red cells lack all of the Cromer blood group antigens as well as the DAF protein. Francis and Gelb described an antibody in the serum of an African-American prenatal patient.CROM ISBT Number . However.Cromer Abbreviation .
250 in African-Americans. The final antibody identified to a high frequency antigen in the Knops system was found in the serum of Mrs. The Helgeson cells were used extensively to test other antibodies with previously unknown specificities.000 in Caucasians and 1 in 1. tested her own blood and found it compatible. In 1997. ie. Thus.Blood Group System . in a report published in 1970. which has been postulated to protect against severe malaria. the protein exists in several sizes as well as an expression polymorphism where the number of molecules on the red blood cell varies from donor to donor. The Sl(a-) phenotype. . CR1 was identified as one of the proteins involved in the rosetting of red cells infected with Plasmodium falciparum malaria to uninfected cells. McCb is found almost exclusively in Africans (~50%) compared to Caucasians (<1%). thus the designation Sla. another antibody was identified that was compatible with the Helgeson cells but not the Knopsnegative cells and this was named McCoy (McCa).Knops Abbreviation . York and was named Yka. these cells do not totally lack CR1 but rather have extremely reduced copy numbers. For instance. Swain and Langley. In 1978. ie. occurs in a frequency of 35-40% in African-Americans. this is only a serological null. These are a structural polymorphisms. but can be as high as 70% in West Africa. Her blood was incompatible with all O negative donor units tested until the blood bank technologist Margaret Helgeson.KN ISBT Number . the antibody was named anti-Kna-Helgeson and the blood group called Knops. however. The rare type in the Knops system is the "Helgeson" phenotype. Thus. The CR1 protein has two other polymorphism in addition to the Knops blood group. Several Knops antigens show ethnic variability. Molecular studies have found that most of the Knops System antigens are due to amino acid substitutions. The incidence has been reported to be 1 in 1.022 The first antibody in the Knops blood group was found in the serum of an O Rh negative woman who had been multiply transfused in previous surgeries. Because of the difficulty in working with these antibodies little attempt was made to characterize them biochemically until it was found that they were carried on a protein known as complement receptor type one (CR1). The next antibody reported for the system was named after the first two antibody producers.
the IN/CD44 protein is of considerable importance in cancer. brain.Indian Abbreviation . A higher frequency of Ina has been found in some Arabs (10-12%). Giles reported the Salis serum which contained an antibody to a high frequency antigen that was antithetical to Ina. The Ina antigen has proline at amino acid 26 while Inb has arginine. liver. has been reported in a patient diagnosed with congenital dyserythropoietic anemia.Blood Group System . In certain types of cancer. It is believed to be important in "lymphocyte homing". breast. A point mutation at bp position 252 is responsible for the Indian antigens. Dr. . Two years later.000 molecular weight glycoprotein that is found on many cells including white blood cells. The gene for Indian is located on chromosome 11p13 and is named CD44. detection of these alternate forms is currently under investigation as a means for early detection of some cancers as well as new therapies for cancer. In this case there appears to be a silent allele present (no protein is produced) but the exact molecular basis for this is unknown at this time. there is an overexpression of some CD44 isoforms.IN ISBT Number . Preliminary data suggest that the antigen AnWj may also be carried on CD44 and that this antigen may soon be assigned to the IN system. eg. ie. CD44 is a 80. it was named Inb. In addition. Thus. "In(a-b-)".023 In 1973 a new antigen was reported that occurred in 5% of Indians from Bombay. the null phenotype. Both of the Indian antigens can be suppressed by the In(Lu) gene (LU). lungs and skin to name a few. Alternative forms or sizes of the CD44 mRNA may be produced and are called isoforms. kidney. melanoma and colonic carcinoma. Although originally investigated as a serological problem. heart. thus.
2. The Ok(a-) phenotype appears to be limited to the Japanese as the only other (two) donors who were Ok(a-) were also Japanese. Since she had never been pregnant.Blood Group System .OK ISBT Number . The antigen is expressed on a glycoprotein having molecular weights ranging from 35.024 The first example of anti-Oka was found in a Japanese woman and was identified by Morel and Hamilton. .000. however. The gene for Oka is located on chromosome 19p13. A monoclonal anti-Oka was produced following immunization with cells from a teratocarcinoma. the antibody most likely was the result of a prior blood transfusion. its function is unknown. This was used to study the biochemical properties of the Oka antigen.Ok Abbreviation . Two of her three siblings were also found to be Ok(a-).000-68.
It has the unique distinction in that more is know about this antigen (and system) using monoclonal antibodies than could be deduced through the use of human source antibody. All three individuals are on renal dialysis because of kidney failure.025 The Raph blood group system consists of only one antigen. Interestingly. Is this merely coincidental or could this possibly suggest the Raph is located on other tissue and this may have some significance with the original antibody producers disease? The monoclonal antibodies that have been produced were stimulated in a mouse using a human small cell carcinoma line. the three presently known examples of human antibody were produced in Jews of India origin but now living in Israel (a set of sibs and the other unrelated). it is possible that Raph could be located on other tissue.Blood Group System . whereas the monoclonal antibody was more readily available and contained no other contaminating antibodies. The protein structure that carries the Raph antigen is unknown at the present time. The human source antibody was difficult to work with. therefore. The expression of the antigen appears to be quantitatively variable amongst the Raph+ individuals. most of the serological information was collected from tests with the monoclonal antibody (MER2) of a similar specificity.RAPH ISBT Number . While the human source antibody was detected first in a patient from whom the name is derived. The Raph antigen is found in 92% of the English population and is a product of a gene located on the short arm of chromosome 11 (11p15). The importance of Raph in transfusion medicine appears to be nonexistent in that the above three individuals have received Raph+ transfusions and have not had transfusion reactions. .Raph Abbreviation .
. However. antiJMH was believed to be a single specificity.Blood Group System . The name was eventually assigned based upon the initials of one of the most thoroughly investigated propositi. Since it is a GPI-anchored protein. In addition to being found on red cells it is also present on leukocytes and it has been given the cluster determination CDw108. Only one family to date has been shown to have an inherited JMH negative phenotype while the majority of the JMH negatives are due to an acquired suppression of the antigen. the JMH antigens are absent from PNH red blood cells as are some of the other blood group bearing molecules.JMH Abbreviation .026 The JMH blood group was first identified by autoantibodies usually found in elderly men whose red cells exhibited a positive direct antiglobulin test. As with many of the early reports. eg. When found in women they too were elderly and were often cat owners. The JMH antigen is a 76 kD protein as identified by both human and monoclonal antibodies. This protein is known to be acquired during lymphocyte activation and may play a role in cell adhesion. hence the earlier nicknames of this collection of specificities was "The Boys" and "Cat".JMH ISBT Number . the Meged serum (and later others) showed that other polymorphic determinants were involved in the JMH phenotype. decay accelerating factor (Cromer).
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