Using red blood cell genomics in transfusion medicine

Johnsen, Jill M.

doi:10.1182/asheducation-2015.1.168

Cited by 14 publications

(16 citation statements)

References 46 publications

(42 reference statements)

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“…The International Society of Blood Transfusion recognizes up to 39 genetically discrete blood group systems with more than 300 blood group antigens identified to date. 1,2 The reported frequencies and phenotypes of red blood cell (RBC) antigens differ in different populations and ethnic groups. 3,4 Most data in the literature report frequencies of common RBC antigens in Europeans, Africans, and some Asian countries.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Red Blood Cell Major Blood Group Antigens and Phenotypes among Omani Blood Donors

et al. 2019

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ObjectivesMost literature on the frequencies of red blood cell (RBC) phenotypes are published in Europeans and Africans countries, with the frequencies in the Omani population unknown. We sought to determine the prevalence of RBC blood group phenotypes among Omani blood donors.MethodsBlood group ABO, RhD type, and phenotyping were performed for 21 blood group antigens on enrolled blood donors. The following antigens were assessed serologically: Rh (C, c, E, e), Kell (K, k, Kpa, Kpb), Kidd (Jka, Jkb), Duffy (Fya, Fyb), Lewis (Lea, Leb), Lutheran (Lua, Lub), MNS (M, N, S, s), and P1.ResultsA total of 337 Omani blood donors were tested. The most common blood group was O+ (44.9%). Among the tested blood donors studied, 89.3% were RhD positive with R1r being the most common Rh phenotype. The k antigen was found at a frequency of 99.4%, while 4.5% of the blood donors studied were K+. The most common phenotype in the Duffy blood group system was Fy(a-b-), while the most common phenotypes in the Kidd and MNS blood group systems were Jk(a+b+) and M+N-S+s+ at 47.0% and 22.6%, respectively. The Le(a+) and Le(b+) antigens were found in 21.7% and 67.3% of the blood donors, respectively. One Jk(a-b-), one Le(a+b+), and two Lu(a-b-) individuals were identified.ConclusionThis is the first study to examine the frequencies of RBC phenotypes among the Omani blood donors. The study’s results show Duffy blood group frequencies that resemble what has been reported in the African population, and higher frequencies of the rare null phenotypes compared to European populations.

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Section: Introductionmentioning

confidence: 99%

Prevalence of Red Blood Cell Major Blood Group Antigens and Phenotypes among Omani Blood Donors

et al. 2019

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“…3,5 Transfusion medicine is an additional discipline with a strong genetics foundation that is exploring this approach. [6][7][8][9][10][11][12][13][14][15][16][17] The genetic basis of blood groups has been largely elucidated and applied by commercially available red blood cell (RBC) genotyping platforms. The International Society for Blood Transfusion (ISBT) recognizes 36 blood group systems, encompassing 41 genes and over 1100 haplotype alleles.…”

Section: Resultsmentioning

confidence: 99%

“…A number of successful clinical applications have been reported, and further efforts are under way in the areas of oncology, hemostasis, obstetrics, and pharmacology to identify the clinical benefits of genomic medicine . Transfusion medicine is an additional discipline with a strong genetics foundation that is exploring this approach …”

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confidence: 99%

Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project

et al. 2018

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BACKGROUND The 1000 Genomes Project provides a database of genomic variants from whole genome sequencing of 2504 individuals across five continental superpopulations. This database can enrich our background knowledge of worldwide blood group variant geographic distribution and identify novel variants of potential clinical significance. STUDY DESIGN AND METHODS The 1000 Genomes database was analyzed to 1) expand knowledge about continental distributions of known blood group variants, 2) identify novel variants with antigenic potential and their geographic association, and 3) establish a baseline scaffold of chromosomal coordinates to translate next‐generation sequencing output files into a predicted red blood cell (RBC) phenotype. RESULTS Forty‐two genes were investigated. A total of 604 known variants were mapped to the GRCh37 assembly; 120 of these were reported by 1000 Genomes in at least one superpopulation. All queried variants, including the ACKR1 promoter silencing mutation, are located within exon pull‐down boundaries. The analysis yielded 41 novel population distributions for 34 known variants, as well as 12 novel blood group variants that warrant further validation and study. Four prediction algorithms collectively flagged 79 of 109 (72%) known antigenic or enzymatically detrimental blood group variants, while 4 of 12 variants that do not result in an altered RBC phenotype were flagged as deleterious. CONCLUSION Next‐generation sequencing has known potential for high‐throughput and extended RBC phenotype prediction; a database of GRCh37 and GRCh38 chromosomal coordinates for 120 worldwide blood group variants is provided as a basis for this clinical application.

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“…74 Since using the blood type molecular testing and genotyping in transfusion medicine, the number of weak ABO(H) alleles is still growing. 75 Unusual O alleles, including O2, at the ABO(H) locus may be implicated in unexpected blood group phenotypes, 74 whereas the O(H) phenotype is no longer considered a genetic entity. 76,77 It would be interesting to study the binding of P. falciparum to weak A alleles that appear to serologists as group O but produce irregular anti-A 1 , whose reactivity with Tn-structures is unknown and also arises in some individuals with blood group A 2 , 78 which most likely results from the lack of GalNAc transferase A 1 and exclusive encoding of a specific GalNAc transferase A 2 .…”

Section: Blood Group O(h) Is Evident Based On Its Comprehensive Presementioning

confidence: 99%

Position of human blood group O(H) and phenotype‐determining enzymes in growth and infectious disease

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2018

Annals of the New York Academy of Sciences

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The human ABO(H) blood group phenotypes arise from the evolutionarily oldest genetic system found in primate populations. While the blood group antigen A is considered the ancestral primordial structure, under the selective pressure of life-threatening diseases blood group O(H) came to dominate as the most frequently occurring blood group worldwide. Non-O(H) phenotypes demonstrate impaired formation of adaptive and innate immunoglobulin specificities due to clonal selection and phenotype formation in plasma proteins. Compared with individuals with blood group O(H), blood group A individuals not only have a significantly higher risk of developing certain types of cancer but also exhibit high susceptibility to malaria tropica or infection by Plasmodium falciparum. The phenotype-determining blood group A glycotransferase(s), which affect the levels of anti-A/Tn cross-reactive immunoglobulins in phenotypic glycosidic accommodation, might also mediate adhesion and entry of the parasite to host cells via trans-species O-GalNAc glycosylation of abundantly expressed serine residues that arise throughout the parasite's life cycle, while excluding the possibility of antibody formation against the resulting hybrid Tn antigen. In contrast, human blood group O(H), lacking this enzyme, is indicated to confer a survival advantage regarding the overall risk of developing cancer, and individuals with this blood group rarely develop life-threatening infections involving evolutionarily selective malaria strains.

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Using red blood cell genomics in transfusion medicine

Cited by 14 publications

References 46 publications

Prevalence of Red Blood Cell Major Blood Group Antigens and Phenotypes among Omani Blood Donors

Prevalence of Red Blood Cell Major Blood Group Antigens and Phenotypes among Omani Blood Donors

Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project

Position of human blood group O(H) and phenotype‐determining enzymes in growth and infectious disease

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