Molecular blood typing augments serologic testing and allows for enhanced matching of red blood cells for transfusion in patients with sickle cell disease

Wilkinson, Katie; Harris, S.D.; Gaur, Prashant; Haile, Askale; Armour, Rosalind; Teramura, Gayle; Delaney, Meghan

doi:10.1111/j.1537-2995.2011.03288.x

Cited by 54 publications

(44 citation statements)

References 32 publications

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“…A fenotipagem é preconizada para os antígenos C, c, E, e, e K, mais imunogênicos, permitindo assim reduzir significativamente a produção de aloanticorpos antieritrocitários. Já a genotipagem é apontada como técnica para elucidação de casos onde a fenotipagem é ineficaz para conclusão dos resultados (COSTA, 2013;CHOU, 2013;WILKINSON, 2011;SLOAN, 2016).…”

Section: Discussionunclassified

Aloimunização Eritrocitária Em Pacientes Com Anemia Falciforme Atendidos No Hemocentro De Caruaru, Pernambuco, Brasil

et al. 2018

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Objetivos: A aloimunização eritrocitária é um problema grave em pacientes que recebem transfusões, principalmente no tratamento das hemoglobinopatias, como a anemia falciforme. Os objetivos desse trabalho são estabelecer a frequência da aloimunização eritrocitária em pacientes com anemia falciforme e apontar os fatores envolvidos na aloimunização. Métodos: Estudo descritivo transversal retrospectivo de prevalência, sendo levantadas informações sobre aloimunização e fatores associados, em pacientes com anemia falciforme atendidos pelo Hemocentro de Caruaru, entre janeiro de 1987 a dezembro de 2012. As informações foram obtidas a partir da consulta a dados no sistema de prontuários médicos do Hemocentro, tabuladas em planilhas do programa Excel 2007 (Microsoft Office®) e analisadas estatisticamente através do software R, utilizando o Teste Exato de Fisher e OddsRatio. Resultados: A produção de anticorpos irregulares foi identificada em 11 pacientes, representando uma taxa de aloimunização de 34%. Os anticorpos encontrados foram: 05 anti-C (25%), 05 anti-E (25%), 03 anti-K (15%), 01 anti-D (5%), 01 anti-Cw (5%), 01 anti-Fya (5%), 01 anti-Jka (5%), 01 anti-S (5%), 01 anti-Lea (5%) e 01 anti-Leb (5%). Observou-se que indivíduos com idade acima de 30 anos e pacientes que receberam acima de 10 concentrados de hemácias tiveram maior risco em desenvolver aloanticorpos. Conclusão: Transfusões de hemácias continuam sendo essenciais para o tratamento de complicações da anemia falciforme. A realização da fenotipagem eritrocitária poderá contribuir para reduzir a alosensibilização e consequentemente o número de reações transfusionais hemolíticas, aumentando a segurança transfusional e influenciando na qualidade de vida destes pacientes.

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Aloimunização Eritrocitária Em Pacientes Com Anemia Falciforme Atendidos No Hemocentro De Caruaru, Pernambuco, Brasil

et al. 2018

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“…LaSalle-Williams et al (2011) showed that transfusion of extended phenotype-matched (ABO, Rh, Kell, Kidd, Fy a ) red blood cells in SCD patients significantly reduced alloimmunization. Two other independent studies reporting extended blood group genotyping in SCD patients carried out with a high-throughput platform both demonstrated that the molecular cross-matching strategy may contribute to further decrease the risk of alloimmunization by facilitating the selection of highly antigen-matched red blood cell units (Ribeiro et al, 2009;Wilkinson et al, 2012). The main advantage of our NGSbased system is that it provides a global view of allelic variations in multiple genes no matter what ethnicity or variants, while other high-throughput tools only target several SNPs at the same time.…”

Section: Blood Group Genotyping By Ngs ª 2014 John Wiley and Sons Ltdmentioning

confidence: 99%

Next‐generation sequencing is a credible strategy for blood group genotyping

et al. 2014

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SummaryAlthough several medium/high-throughput tools have been engineered for molecular analysis of blood group genes, they usually rely on the targeting of single nucleotide polymorphisms, while other variants remain unidentified. To circumvent this limitation a strategy for genotyping blood group genes by next-generation sequencing (NGS) was set up. Libraries consisting of exons, flanking introns and untranslated regions of 18 genes involved in 15 blood systems were generated by the Ion AmpliSeq TM Library Kit 2.0 and by fragmenting polymerase chain reaction products, normalized by two different approaches, mixed and sequenced by the Ion Torrent Personal Genome Machine (PGM TM ) Sequencer. In our conditions, defined to limit both intra-and inter-sample variability, sequences from mixed libraries were read in a single run for a total coverage of 86Á03% of the coding DNA sequences, including all loci defining the most clinically relevant antigens in all genes, except ABO. Importantly, the challenging attempt to generate gene-specific data for the homologous genes was successful. This work, which combines two complementary approaches to generate libraries, defines technical conditions for genotyping blood group genes, illustrates that NGS is suitable for such an application and suggests that, after automation, this novel tool could be used for molecular typing at the laboratory level.

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“…Now there are many institutions matching for Rh C and E and Kell (K) antigens, reserving additional blood type match levels for alloimmunized patients. [15][16][17][18][19][20][21][22] This strategy has demonstrated success in reduced alloimmunization rates (to Ͻ4% in some reports) in sickle cell disease, [15][16][17][18][19][20][21] and it is recommended that all sickle cell disease patients undergo extended blood typing early in life. 9 Other patients at high risk for allosensitization, particularly multiply transfused patients, such as patients with other hemoglobinopathies 23 or those awaiting transplant, 24 are also candidates to similarly benefit from extended blood typing strategies.…”

Section: Clinical Significance Of Blood Types: Allosensitizationmentioning

confidence: 99%

Using red blood cell genomics in transfusion medicine

Johnsen

2015

Hematology

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Blood types (blood group antigens) are heritable polymorphic antigenic molecules on the surface of blood cells. These were amongst the first human Mendelian traits identified, and the genetic basis of nearly all of the hundreds of blood types is known. Clinical laboratory methods have proven useful to identify selected blood group gene variants, and use of genetic blood type information is becoming widespread. However, the breadth and complexity of clinically relevant blood group genetic variation poses challenges. With recent advances in next-generation sequencing technologies, a more comprehensive DNA sequence-based genetic blood typing approach is now feasible. This chapter introduces the practitioner to high-resolution genetic blood typing beginning with an overview of the genetics of blood group antigens, the clinical problem of allosensitization, current blood type testing methods, and then discussion of next-generation sequencing and its application to the problem of genetic blood typing. Learning Objectives• To understand the different types of genetic variation • To introduce principles of the nomenclature used to describe DNA variants • To understand the strengths and limitations in assigning blood types using genetic information

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Molecular blood typing augments serologic testing and allows for enhanced matching of red blood cells for transfusion in patients with sickle cell disease

Cited by 54 publications

References 32 publications

Aloimunização Eritrocitária Em Pacientes Com Anemia Falciforme Atendidos No Hemocentro De Caruaru, Pernambuco, Brasil

Aloimunização Eritrocitária Em Pacientes Com Anemia Falciforme Atendidos No Hemocentro De Caruaru, Pernambuco, Brasil

Next‐generation sequencing is a credible strategy for blood group genotyping

Using red blood cell genomics in transfusion medicine

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