| 1. |
- Brumit, M C, et al.
(författare)
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Moderate hemolytic disease of the newborn (HDN) due to anti-Rh17 produced by a black female with an e variant phenotype
- 2002
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Ingår i: Immunohematology. - 0894-203X. ; 18:2, s. 40-42
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Tidskriftsartikel (refereegranskat)abstract
- The Rh blood group antigen e is of high incidence and has many epitopes. Partial expression may occur, more commonly in black persons. Individuals with e variant phenotypes can make antibodies to epitopes they lack. While some of these antibodies may be specific for an antigen, e.g., hrB, others, like anti-Rh17 (anti-Hro), show broader specificity, compatible only with D-- and Rhnull red blood cells (RBCs). Anti-Rh17 in persons of the D-- phenotype has been reported to cause mild to fatal HDN. We report an example of anti-Rh17 produced by a black female with an e variant RBC phenotype that caused moderate HDN. A panel of seven monoclonal anti-e demonstrated her RBCs carried a variant e antigen, and her genotype was RHD, RHce by PCR-RFLP analysis. Amniotic fluid with.OD450 values from 30 to 35 weeks' gestation predicted moderate HDN probability by the Liley method. At 38+ weeks, a viable 3165 g female infant was delivered. The infant's direct antiglobulin test was 2+ with anti-IgG. Total bilirubin rose to 14.2 mg/dL within 48 hours. Indirect bilirubin peaked at 14.7 mg/dL. The bilirubin responded to triple phototherapy. The infant was discharged on day 6. Potential for infant morbidity due to anti-Rh17- mediated HDN and the importance of specifying risks to women with this antibody if they contemplate pregnancy are discussed.
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| 2. |
- Hellberg, Åsa, et al.
(författare)
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An update on the GLOB blood group system and collection.
- 2013
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Ingår i: Immunohematology. - 0894-203X. ; 29:1, s. 19-24
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Tidskriftsartikel (refereegranskat)abstract
- The P blood group antigen of the GLOB system is a glycolipid structure, also known as globoside, on the red blood cells (RBCs) of almost all individuals worldwide. The P antigen is intimately related to the Pk and NOR antigens discussed in the review about the P1PK blood group system. Naturally occurring anti-P is present in the serum of individuals with the rare globoside-deficient phenotypes p, P1k, and P2k and has been implicated in hemolytic transfusion reactions as well as unfavorable outcomes of pregnancy. The molecular genetic basis of globoside deficiency is absence of functional P synthase as a result of mutations at the B3GALNT1 locus. Other related glycolipid structures, the LKE and PX2 antigens, remain in the GLOB blood group collection pending further evidence about the genes and gene products responsible for their synthesis.
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| 3. |
- Hellberg, Åsa, et al.
(författare)
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P1PK: the blood group system that changed its name and expanded.
- 2013
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Ingår i: Immunohematology. - 0894-203X. ; 29:1, s. 25-33
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Tidskriftsartikel (refereegranskat)abstract
- The antigens in the P1PK blood group system are carried on glycosphingolipids. The system currently includes three different antigens, P1, Pk, and NOR. The P1 antigen was disovered in 1927 by Landsteiner and Levine, and Pk and NOR were described in 1951 and 1982, respectively. As in the ABO system, naturally occurring antibodies of the immunoglobulin (Ig) M or IgG class, against the missing carbohydrate structures, can be present in the sera of people lacking the corresponding antigen. Anti-P1 is generally a weak and cold-reactive antibody not implicated in hemolytic transfusion reaction (HTR) or hemolytic disease of the fetus and newborn while Pk antibodies can cause HTR, and anti-NOR is regarded as a polyagglutinin. A higher frequency of miscarriage is seen in women with the rare phenotypes p, P1k, and P2k. Furthermore, the Pk and P1 antigens have wide tissue distributions and can act as host receptors for various pathogens and toxins. Why p individuals lack not only Pk and P expression but also P1 has been a longstanding enigma. Recently, it was shown that the same A4GALT-encoded galactosyltransferase synthesizes both the P1 and Pk antigens and that a polymorphism in a new exon in this gene predicts the P1 and P2 phenotypes.
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| 4. |
- Hult, Annika K., et al.
(författare)
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May the FORS be with you : a system sequel
- 2020
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Ingår i: Immunohematology. - 0894-203X. ; 36:1, s. 14-18
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Forskningsöversikt (refereegranskat)abstract
- This article is an update of the review of the FORS system published in Immunohematology in 2017 (Hult AK, Olsson ML. The FORS awakens: review of a blood group system reborn. Immunohematology 2017;33:64-72). This update incorporates the most recently presented knowledge on this still enigmatic system and its genetic, enzymatic, and immunological aspects. Further insight into the genetic variation and allele frequencies of the GBGT1 locus has been reported, and screening studies regarding the prevalence of naturally occurring anti-FORS1 in human plasma have been performed and presented. More basic knowledge on the specificity of the gene product, the Forssman synthase, has been obtained in several detailed studies, and its relation to the homologous ABO gene has been investigated. Taken together, we summarize recently added information about the carbohydrate-based FORS blood group system (International Society of Blood Transfusion number 031).
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| 5. |
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| 6. |
- Ilsley, M. D., et al.
(författare)
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Yes, MAM : How the cancer-related EMP3 protein became a regulator of erythropoiesis and the key protein underlying a new blood group system
- 2022
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Ingår i: Immunohematology. - 0894-203X. ; 38:4, s. 130-136
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Tidskriftsartikel (refereegranskat)abstract
- The MAM blood group system (International Society of Blood Transfusion [ISBT] 041) consists of one high-prevalence antigen to date, first detected in a 31-year-old woman during her third pregnancy. Epithelial membrane protein 3 (EMP3) was recently identified as the gene coding the MAM antigen. Six unique genetic variants have been described in EMP3 in 11 MAM- individuals. EMP3 is an 18-kDa glycoprotein with a large extracellular domain containing at least one N-glycosylation site. The normal function of EMP3 is still unclear, but ex vivo culture of erythropoietic progenitor cells from MAM- individuals shows an increased yield of reticulocytes, suggesting that EMP3 acts as a brake during normal erythropoiesis. EMP3 is abundant on different cell types, including many epithelial tissues and blood cells. Interestingly, EMP3 expression has been suggested as a prognostic marker for a number of cancer types, both for good and poor prognoses. EMP3 may act as a tumor suppressor or an oncogene in different cancer contexts. The protein appears to interact with other cell surface receptors and affects the downstream signaling and function of these proteins. MAM- red blood cells express low levels of CD44 and, consequently, the antigens of the Indian blood group system are only weakly expressed. Clinically, the MAM blood group antigen is important with regard to blood transfusion and pregnancy. Anti-MAM can cause severe hemolytic disease of the fetus and newborn in some pregnancies but have little to no effect in other pregnancies. Cases are typically not detected until problems occur during pregnancy, making the availability of compatible blood a challenge.
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| 7. |
- Kosanke, J, et al.
(författare)
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Confirmation that the JAHK antigen is associated with the rG haplotype
- 2002
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Ingår i: Immunohematology. - 0894-203X. ; 18:2, s. 46-46
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Tidskriftsartikel (refereegranskat)abstract
- Anti-JAHK, an antibody directed toward a low-incidence antigen in the Rh system, was detected during routine antibody identification in a male donor who had no history of transfusion. Examples of anti-JAHK have been found in sera containing multiple antibodies to low-incidence antigens. The first report of anti-JAHK was in 1995 and described the association of the JAHK antigen with the rG haplotype. Our results confirm this association.
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| 8. |
- Lee, Yan Q., et al.
(författare)
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The Xg blood group system : no longer forgotten
- 2020
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Ingår i: Immunohematology. - 0894-203X. ; 36:1, s. 4-6
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- This update of the Xg blood group system (Johnson NC. XG: The forgotten blood group system. Immunohematology 2011;27:68-71) notes the identification of a cis-regulatory element of both XG and CD99 expression, remarkably by two independent groups during 2018, and confirmed by another in 2019. A single nucleotide change at the XG locus (rs311103) abolishes GATA1 binding and suppresses both XG and CD99. The last blood group system to resist elucidation of its genetic basis was thereby resolved. Soon afterwards, it was discovered that the rare anti-Xga response, mainly seen in men, is produced by individuals primarily carrying a large deletion in the X chromosome that truncates XG and leads to the Xgnull phenotype.
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| 9. |
- McGowan, E C, et al.
(författare)
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The LW blood group system : not just "tagging along" with D
- 2023
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Ingår i: Immunohematology. - 0894-203X. ; 39:2, s. 72-76
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Forskningsöversikt (refereegranskat)abstract
- This update of the Landsteiner-Wiener (LW) blood group system (Grandstaff Moulds MK. The LW blood group system: a review. Immunohematology 2011;27:136-42. Storry JR. Review: the LW blood group system. Immunohematology 1992;8:87-93) reports new information on the distribution of genetic variants in ICAM4 and reviews the complex serologic identification of the high-prevalence LWEM antigen. The role of ICAM4 in sickle cell disease and malaria susceptibility is discussed.
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| 10. |
- Perry, H E, et al.
(författare)
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A novel study of association between Neisseria gonorrhoeae and the human carbohydrate blood groups.
- 2007
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Ingår i: Immunohematology / American Red Cross. - 0894-203X. ; 23:3, s. 100-4
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies of association of ABO blood groups with gonorrhea have shown contradictory results. Despite the interdependencies of ABO, Lewis, and secretor systems, none of the previous studies examined the combined effect of these systems on their proposed association with gonorrhea. This study attempted to redress that and used genotyping in addition to RBC phenotyping to determine correct tissue phenotypes. Samples from 131 gonorrhea-positive individuals and from 175 gonorrhea-negative individuals were typed for ABO and Lewis using routine antisera. Secretor and Lewis genotyping was performed to ensure accurate determination of ABO and Lewis phenotypes. Chi-square and probability values were used to examine whether there is an association of ABO, Lewis, and secretor systems with gonorrhea infection. Neither single nor combined statistical analysis of data sets yielded a significant association of ABO, Lewis, and secretor phenotypes with Neisseria gonorrhoeae. Nevertheless, this study is an example of the approach that should be taken when examining microbial associations with ABO antigens, in turn influenced by coexpression and modification by the interdependent systems of Lewis and secretor, in mucosal tissues.
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| 11. |
- Ricci Hagman, Jennifer, et al.
(författare)
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An update on the GLOB blood group system (and former GLOB collection)
- 2018
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Ingår i: Immunohematology. - 0894-203X. ; 34:4, s. 161-163
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Tidskriftsartikel (refereegranskat)abstract
- CONCLUSIONS: The main change that has occurred in the GLOB blood group system since the GLOB review published in this journal in 2013 is the addition of an antigen. The high-prevalence PX2 antigen, originally recognized as the x2 glycosphingolipid, is expressed on red blood cells of most individuals and is elevated in the rare PP1Pk-negative p blood group phenotype. P synthase, encoded by B3GALNT1, was found to elongate paragloboside to PX2 by adding the terminal β3GalNAc moiety. Hence, PX2 was moved from the GLOB collection to the GLOB system. The presence of naturally-occurring anti-PX2 was noted in P1k and P2k individuals exhibiting nonfunctional P synthase. Although the clinical significance of this specificity remains unclear, a recommendation to avoid transfusing Pk patients with p phenotype blood has been made. Currently, 13 mutations at the highly conserved B3GALNT1 locus have been found to abolish P synthase function and are recognized as null alleles by the International Society of Blood Transfusion. A new allele with a missense mutation but resulting in normal expression of P has been assigned GLOB*02. Finally, the GLOB collection was made obsolete after the move of LKE antigen to the 901 series.
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| 12. |
- Shariatmadar, S, et al.
(författare)
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Cefotetan-induced immune hemolytic anemia following prophylaxis for cesarean delivery
- 2004
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Ingår i: Immunohematology. - 0894-203X. ; 20:1, s. 63-66
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Tidskriftsartikel (refereegranskat)abstract
- Second- and third-generation cephalosporins, notably cefotetan, are increasingly implicated in severe, sometimes fatal immunemediated hemolytic anemia. We describe a 26-year-old woman who developed severe hemolytic anemia 2 weeks after receiving a single prophylactic dose of cefotetan during cesarean delivery. The patient's DAT was weakly reactive for IgG and her serum reacted with cefotetan-coated RBCs. The antibody had a titer of 4,096 by antiglobulin testing. The patient required treatment with two units of PRBCs and experienced gradual resolution of hemolysis. Our case emphasizes the need for increased awareness of delayed onset hemolytic anemia following prophylactic use of cefotetan.
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| 13. |
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| 14. |
- Stenfelt, L., et al.
(författare)
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SID : A new carbohydrate blood group system based on a well-characterized but still mysterious antigen of great pathophysiologic interest
- 2023
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Ingår i: Immunohematology. - 0894-203X. ; 39:1, s. 1-10
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Tidskriftsartikel (refereegranskat)abstract
- The high-prevalence blood group antigen, Sda, had been puzzling blood bankers and transfusionists for at least a decade when it was reported in 1967. The characteristic mix of agglutinates and free red blood cells (RBCs), caused by anti-Sda, is seen with the RBCs from 90 percent of individuals of European descent. However, only 2-4 percent of individuals are truly Sd(a-) and may produce anti-Sda. The antibodies, generally considered insignificant, may cause hemolytic transfusion reactions with high-expressing Sd(a+) RBCs (e.g., the unusual Cad phenotype, which can also be polyagglutinable). The Sda glycan, GalNAcβ1-4(NeuAcα2-3)Gal-R, is produced in the gastrointestinal and urinary systems, while its origin on RBCs is more controversial. According to current theory, Sda is likely to be passively adsorbed in low amounts, except in Cad individuals, where it has been found on erythroid proteins and at higher levels. The long-standing hypothesis that B4GALNT2 encodes the Sda synthase was confirmed in 2019, since homozygosity for a variant allele with rs7224888:C produces a non-functional enzyme associated with most cases of the Sd(a-) phenotype. Thereby, the SID blood group system was acknowledged as number 038 by the International Society of Blood Transfusion. Although the genetic background of Sd(a-) was settled, questions remain. The genetic background of the Cad phenotype has not yet been determined, and the source of the RBC-carried Sda is unknown. Furthermore, the interest of Sda stretches beyond transfusion medicine. Some tantalizing examples are lowered antigen levels in malignant tissue compared with normal tissue and interference with infectious agents like Escherichia coli, influenza virus, and malaria parasites.
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| 15. |
- Stenfelt, Linn, et al.
(författare)
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The P1PK blood group system : revisited and resolved
- 2020
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Ingår i: Immunohematology. - 0894-203X. ; 36:3, s. 99-103
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Tidskriftsartikel (refereegranskat)abstract
- CONCLUSIONS: This update on the P1PK blood group system (Hellberg Å, Westman JS, Thuresson B, Olsson ML. P1PK: the blood group system that changed its name and expanded. Immunohematology 2013;29:25-33) provides recent findings concerning the P1PK blood group system that have both challenged and confirmed old theories. The glycosphingolipids can no longer be considered the sole carriers of the antigens in this system because the P1 antigen has been detected on human red blood cell glycoproteins. New indications suggest that P1Pk synthase activity truly depends on the DXD motif, and the genetic background and molecular mechanism behind the common P1 and P2 phenotypes were found to depend on transcriptional regulation. Transcription factors bind the P1 allele selectively to a motif around rs5751348 in a regulatory region of A4GALT, which enhances transcription of the gene. Nonetheless, unexplained differences in antigen expression between individuals remain.
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| 16. |
- Storry, J. R., et al.
(författare)
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The Cromer blood group system : an update
- 2021
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Ingår i: Immunohematology. - 0894-203X. ; 37:3, s. 118-121
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Forskningsöversikt (refereegranskat)abstract
- This update of the Cromer (CROM) blood group system (Storry JR, Reid ME, Yazer MH. The Cromer blood group system: a review. Immunohematology 2010;26:109–17) includes additional variants to the Cromer system (ISBT021), both new antigens and new molecular bases underlying the null phenotype. The molecule on which the Cromer blood group antigens are carried, CD55 (DAF), is an important receptor for the malaria parasite, Plasmodiumfalciparum,andtheroleofCD55inhealthanddisease continues to expand. Immunohematology 2021;37:118–121. DOI: 10.21307/immunohematology-2021-017.
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| 17. |
- Storry, Jill R, et al.
(författare)
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The Vel blood group system : a review
- 2017
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Ingår i: Immunohematology. - 0894-203X. ; 33:2, s. 56-59
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Forskningsöversikt (refereegranskat)abstract
- CONCLUSIONS: The blood group antigen Vel has been one of immunohematology's greatest enigmas: the variation in antigen strength from one individual to another, the property of anti-Vel to readily hemolyze Vel+ red blood cells (RBCs), and the difficulty to screen for sufficient numbers of Vel- blood donors had made Vel a tough nut to crack. In 2013, a small, previously unknown protein called small integral membrane protein 1 (SMIM1) was identified on the RBC by three independent research groups using different approaches, and all three groups demonstrated that Vel- RBCs lacked SMIM1. This discovery correlated with homozygosity for deletion c.64_60del in SMIM1 and meant that for the first time there was a universal method to screen for Vel- blood donors. This finding was not the whole answer, however, and an explanation behind the variability in antigen strength was later shown to be due to polymorphism in SMIM1 intron 2, a region that is responsible for gene transcription. Clinically, anti-Vel is important and has caused severe transfusion reactions, although hemolytic disease of the fetus and newborn caused by anti-Vel is uncommon. However, while screening for Vel- blood donors has become easier, the function of SMIM1 is still unknown, and despite its well-conserved sequence across the animal kingdom, the enigma continues.
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| 18. |
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| 19. |
- Storry, Jill, et al.
(författare)
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The ABO blood group system revisited: a review and update.
- 2009
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Ingår i: Immunohematology. - 0894-203X. ; 25:2, s. 48-59
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Tidskriftsartikel (refereegranskat)abstract
- The antigens of the ABO system were the first to be recognized as blood groups and actually the first human genetic markers known. Their presence and the realization of naturally occurring antibodies to those antigens lacking from the cells made sense of the erratic failure of blood transfusion hitherto and opened up the possibility of a safe treatment practice in life-threatening blood loss. Although initially apparently simple, the ABO system has come to grow in complexity over the years. The mass of knowledge relating to carbohydrate chemistry, enzymology, molecular genetics, and structural and evolutionary biology is now enormous thanks to more than a century of research using ABO as a principal model. This has provided us with data to form a solid platform of evidence-based transfusion and transplantation medicine used every day in laboratories and clinics around the globe. This review aims to summarize key findings and recent progress made toward further understanding of this surprisingly polymorphic system.
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| 20. |
- Storry, Jill, et al.
(författare)
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The Cromer blood group system: a review
- 2002
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Ingår i: Immunohematology. - 0894-203X. ; 18:4, s. 95-95
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Tidskriftsartikel (refereegranskat)abstract
- The antigens of the Cromer blood group system reside on decay accelerating factor (DAF), a protein belonging to the regulators of complement activation family. The blood group system consists of eight high-incidence antigens and three low-incidence antigens. The molecular basis for the antigens is known and, with the exception of IFC, each antigen is the product of a single nucleotide polymorphism in the DAF gene and has been localized to one of the four short consensus repeat regions on the DAF protein. The red blood cells (RBCs) of people with the Cromer null phenotype, Inab, lack DAF. Antibodies to Cromer antigens are rarely encountered although there is evidence that the antibodies may cause accelerated destruction of transfused RBCs. There is no risk of hemolytic disease of the newborn associated with Cromer system antibodies because the placenta is a rich source of fetally derived DAF, which is thought to adsorb the antibodies.
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| 21. |
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| 22. |
- Wester, Elisabet Sjöberg, et al.
(författare)
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A simple screening assay for the most common JK*0 alleles revealed compound heterozygosity in Jk(a-b-) probands from Guam
- 2009
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Ingår i: Immunohematology. - 0894-203X. ; 25:4, s. 165-169
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Tidskriftsartikel (refereegranskat)abstract
- The Jk(a-b-) phenotype results from alterations in the JK gene and is characterized by absence of the RBC urea transporter in the cell membrane. The frequency of Jk(a-b-) varies among populations, but this phenotype is most commonly found in people of Polynesian and Finnish descent. Although rare, Jk(a-b-) individuals present a clinical challenge because anti-Jk3 is produced readily in response to transfusion and pregnancy, and Jk(a-b-) blood is not routinely available. Identification of Jk(a-b-) patients and donors is most often performed serologically. However, ten JK*o alleles have been identified, and this information can be used in DNA-based typing. We selected five JK*o alleles that had been encountered by our reference laboratory in two or more samples from unrelated individuals and designed an allele-specific primer PCR assay for use as an initial screening tool. After in-house validation, we tested genomic DNA from a family: a mother and her two sons referred to us for genetic investigation of their Jk(a-b-) phenotypes. Two different nucleotide substitutions, -1g>a in intron 5 (IVS5) and 956C>T in exon 10, originally associated with Polynesian and Indian/African populations respectively, were identified in the family. The mother and one son were compound heterozygotes, and the second son was homozygous for IVS5-1g>a. We conclude that the effort to design and validate such a screening assay was cost-efficient when compared with DNA sequencing costs. Furthermore, selection of the more common JK*o mutations was a practical approach that resulted in rapid identification of the genetic bases behind the Jk(a-b-) phenotypes in this unusual family. Although an obvious target for eventual inclusion into high-throughput genotyping platforms for clinical diagnostic services, current systems are very limited. Our approach provides a simple and inexpensive method for the identification of these rare alleles.
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| 23. |
- Yazer, Mark H., et al.
(författare)
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The O2 allele : Questioning the phenotypic definition of an ABO allele
- 2008
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Ingår i: Immunohematology. - : Walter de Gruyter GmbH. - 0894-203X .- 1930-3955. ; 24:4, s. 138-147
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Forskningsöversikt (refereegranskat)abstract
- There are three main alleles in the ABO blood group system, A, B, and O. The former two alleles encode glycosyltransferases resulting in the wild-type A and B phenotypes, whereas the latter allele does not encode a functional enzyme owing to a frameshift polymorphism in the majority of cases. Thus the group O phenotype is the absence of A or B sugars. More than 15 years ago the O 2 allele was described; this allele did not feature the usual crippling 261delG polymorphism, which up to that point was the hallmark of an allele encoding group O, but instead had several other nucleotide polymorphisms that reduced or eliminated the activity of its resulting protein. The classification of this type of allele as encoding group O has been called into question of late as some individuals with an O2 allele appear to have a weak A phenotype. Others with the same allele do not demonstrate any A antigens on their RBCs but might be involved in reverse typing discrepancies. Even within the same pedigree these alleles do not necessarily produce a consistent phenotype. This paper will summarize the detailed biochemical and population-based evidence both for and against the O2 allele's ability to create A antigens or the absence of anti-A in plasma.
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