Molecular Basis of KELnull Phenotype in Brazilians

Boturão‐Neto, Edmir; Yamamoto, Masahiro; Chiba, Akemi Kuroda; Kimura, Eliza Yuriko Sugano; Oliveira, Maria do Carmo Valgueiro Costa de; Barretto, Cláudia Lumack do Monte; Nunes, Mércia Maria Alves; Albuquerque, Sérgio Roberto Lopes; Santos, Marcos Daniel de Deus; Bordin, José Orlando

doi:10.1159/000370232

Cited by 7 publications

(5 citation statements)

References 34 publications

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“…In the present study, three KEL*02N alleles were identified: c.1546C>T ( KEL*02N.17 ), c.382C>T ( KEL*02N.26 ), and c.1042 C>T ( KEL*02N.04 ). Of these, KEL*02N.26 has been described among Native Americans and people of African ancestry and KEL*02N.04 among Caucasians, Portuguese, and Brazilians 15,17,47,48 . Therefore, the presence of these altered alleles in the studied patient population was expected.…”

Section: Discussionmentioning

confidence: 91%

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

et al. 2020

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Background Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to individuals with sickle cell disease (SCD), who frequently undergo chronic transfusion therapy with antigen‐matched units. The goal was to describe the diversity and the frequency of variants in SLC14A1, ACKR1, and KEL genes among individuals with SCD using whole genome sequencing (WGS) data. Study Design and Methods Two large SCD cohorts were studied: the Recipient Epidemiology and Donor Evaluation Study III (REDS‐III) (n = 2634) and the Outcome Modifying Gene in SCD (OMG) (n = 640). Most of the studied individuals were of mixed origin. WGS was performed as part of the National Heart, Lung, and Blood Institute's Trans‐Omics for Precision Medicine (TOPMed) program. Results In SLC14A1, variants included four encoding a weak Jka phenotype and five null alleles (JKnull). JKA*01N.09 was the most common JKnull. One possible JKnull mutation was novel: c.812G>T. In ACKR1, identified variants included two that predicted Fyx (FY*X) and one corresponding to the c.‐67T>C GATA mutation. The c.‐67T>C mutation was associated with FY*A (FY*01N.01) in four participants. FY*X was identified in 49 individuals. In KEL, identified variants included three null alleles (KEL*02N.17, KEL*02N.26, and KEL*02N.04) and one allele predicting Kmod phenotype, all in heterozygosity. Conclusions We described the diversity and distribution of SLC14A1, ACKR1, and KEL variants in two large SCD cohorts, comprising mostly individuals of mixed ancestry. This information may be useful for planning the transfusion support of patients with SCD.

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Section: Discussionmentioning

confidence: 91%

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

et al. 2020

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“…While, K+ k-individuals still express other Kell antigens, e.g. Kp b or KEL11, none of the Kell antigens are expressed on cells of the Kell-null phenotype, K 0 , which arise from homozygous or compound heterozygous KEL-inactivating mutations [6][7][8]. K 0 individuals are exceedingly rare and may only be found at frequency fewer than 1 individual per 1 million Austrians [6].…”

Section: Introductionmentioning

confidence: 99%

Low-Frequency Blood Group Antigens in Switzerland

Gassner

Degenhardt

Meyer

et al. 2018

Transfus Med Hemother

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Background: High-frequency blood group antigens (HFA) are present in >90% of the human population, according to some reports even in >99% of individuals. Therefore, patients lacking HFA may become challenging for transfusion support because compatible blood is hardly found, and if the patient carries alloantibodies, the cross-match will be positive with virtual every red cell unit tested. Methods: In this study, we applied high-throughput blood group SNP genotyping on >37,000 Swiss blood donors, intending to identify homozygous carriers of low-frequency blood group antigens (LFA). Results: 326 such individuals were identified and made available to transfusion specialists for future support of patients in need of rare blood products. Conclusion: Thorough comparison of minor allele frequencies using population genetics revealed heterogeneity of allele distributions among Swiss blood donors which may be explained by the topographical and cultural peculiarities of Switzerland. Moreover, geographically localized donor subpopulations are described which contain above-average numbers of individuals carrying rare blood group genotypes.

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“…They also included samples from individuals with a K 0 phenotype and a sample from an individual with McLeod syndrome, in which Kell antigens are weakly expressed. In a Brazilian study, three K 0 samples were confirmed by flow cytometry to be K−, k−Kp(a−b−), Jsb− .…”

Section: Detection and Semiquantification Of Erythrocyte Antigensmentioning

confidence: 94%

Flow cytometry in transfusion medicine: an overview

Hult

2017

ISBT Science Series

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Background Flow cytometry has been used in many different settings to, for example, analyse subpopulations of leucocytes in quality control of stem cell grafts and in the diagnosis of lymphoma and leukaemia. In transfusion medicine, it has mainly been utilized for detection and semiquantification of various blood group antigens as a complement to traditional serology, for quality control of blood components and detection of fetomaternal haemorrhage. Today, when flow cytometers are becoming smaller, cheaper and more user friendly and are available in many routine laboratories, the method should be considered as a valuable tool to use in addition to serology and genomic typing.Objectives To give an overview of how flow cytometry can be useful in a transfusion medicine setting as a complement to both traditional serology and molecular testing.Conclusion Flow cytometry has the advantages of a higher sensitivity for some antigens than in traditional serology and the ability to easily distinguish between two or more populations of cells, which makes it a useful tool in many clinical settings, for example in defining chimeras and in detection of fetomaternal bleeding. The combination of molecular testing and the detection of surface antigens by flow cytometry are found useful. When resolving clinically relevant ABO discrepancies we have found the combination of genetic testing and semiquantification of ABO antigens by flow cytometry very helpful. Taken together flow cytometry is a handy tool in clinical routine analysis as well as in research focusing on transfusion medicine.

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Molecular Basis of KELnull Phenotype in Brazilians

Cited by 7 publications

References 34 publications

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

Low-Frequency Blood Group Antigens in Switzerland

Flow cytometry in transfusion medicine: an overview

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