Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes

Autores
Luján Brajovich, Melina Eliana; Trucco Boggione, Carolina; Biondi, Claudia Silvia; Racca, Amelia; Tarragó, Marcel; Nogués, Núria; Muñiz Díaz, Eduardo; Cotorruelo, Carlos Miguel
Año de publicación
2011
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
BACKGROUND: The serologic assignment of the D antigen status may be hindered in patients with weak D expression hampering clinical decision making in transfusion and obstetric medicine. A comprehensive study of RHD alleles occurring in the mixed population of Argentina is necessary to evaluate the most suitable DNA typing strategy. STUDY DESIGN AND METHODS: A total of 18378 patients from two stratified groups: G1 (public hospital) and G2 (private laboratory) were RhD phenotyped and 88 weakly reacting samples underwent molecular characterization. RESULTS: The frequency of D positive, D negative and variant D phenotypes differed significantly (p<0.001) between G1 and G2 (94.49% vs 87.66%, 5.15% vs 11.58%, 0.36% vs 0.75%, respectively). Eleven different alleles were responsible for the weak D expression. Approximately 60% of the weakly reacting samples from G1 and G2 were weak D types 1 through 4.0/4.2 and 25% were D category VII. RHD alleles associated with African ancestry were encountered in G1. A new G>A mutation at the D specific position -282 within the promoter region of DAU-4 and DOL alleles was identified. Three weak D type 1 samples with a ccee phenotype were found in G1. CONCLUSIONS: The D phenotype distribution found in G2 resembles that in Europeans while the frequencies in G1 may account for the Amerindian and African genetic contribution. The genotyping strategy used in this work is suitable to study the variant D phenotypes present in the overall population and could allow a better use of the few available D negative units as well as a more rationale administration of anti-D immunoglobulin. The results also show that weak D type 1 alleles do not exclusively segregate with a Ce allele, as assumed until present.
Fil: Luján Brajovich, Melina Eliana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Trucco Boggione, Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Biondi, Claudia Silvia. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Racca, Amelia. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Tarragó, Marcel. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Nogués, Núria. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Muñiz Díaz, Eduardo. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Cotorruelo, Carlos Miguel. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina
Materia
Rh SYSTEM
RHD ALLELES
WEAK D
PARTIAL D
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/268540
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/268540
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypesLuján Brajovich, Melina ElianaTrucco Boggione, CarolinaBiondi, Claudia SilviaRacca, AmeliaTarragó, MarcelNogués, NúriaMuñiz Díaz, EduardoCotorruelo, Carlos MiguelRh SYSTEMRHD ALLELESWEAK DPARTIAL Dhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3BACKGROUND: The serologic assignment of the D antigen status may be hindered in patients with weak D expression hampering clinical decision making in transfusion and obstetric medicine. A comprehensive study of RHD alleles occurring in the mixed population of Argentina is necessary to evaluate the most suitable DNA typing strategy. STUDY DESIGN AND METHODS: A total of 18378 patients from two stratified groups: G1 (public hospital) and G2 (private laboratory) were RhD phenotyped and 88 weakly reacting samples underwent molecular characterization. RESULTS: The frequency of D positive, D negative and variant D phenotypes differed significantly (p<0.001) between G1 and G2 (94.49% vs 87.66%, 5.15% vs 11.58%, 0.36% vs 0.75%, respectively). Eleven different alleles were responsible for the weak D expression. Approximately 60% of the weakly reacting samples from G1 and G2 were weak D types 1 through 4.0/4.2 and 25% were D category VII. RHD alleles associated with African ancestry were encountered in G1. A new G>A mutation at the D specific position -282 within the promoter region of DAU-4 and DOL alleles was identified. Three weak D type 1 samples with a ccee phenotype were found in G1. CONCLUSIONS: The D phenotype distribution found in G2 resembles that in Europeans while the frequencies in G1 may account for the Amerindian and African genetic contribution. The genotyping strategy used in this work is suitable to study the variant D phenotypes present in the overall population and could allow a better use of the few available D negative units as well as a more rationale administration of anti-D immunoglobulin. The results also show that weak D type 1 alleles do not exclusively segregate with a Ce allele, as assumed until present.Fil: Luján Brajovich, Melina Eliana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; ArgentinaFil: Trucco Boggione, Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; ArgentinaFil: Biondi, Claudia Silvia. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; ArgentinaFil: Racca, Amelia. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; ArgentinaFil: Tarragó, Marcel. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; ArgentinaFil: Nogués, Núria. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; ArgentinaFil: Muñiz Díaz, Eduardo. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; ArgentinaFil: Cotorruelo, Carlos Miguel. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; ArgentinaWiley Blackwell Publishing, Inc2011-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/268540Luján Brajovich, Melina Eliana; Trucco Boggione, Carolina; Biondi, Claudia Silvia; Racca, Amelia; Tarragó, Marcel ; et al.; Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes; Wiley Blackwell Publishing, Inc; Transfusion; 52; 2; 8-2011; 389-3960041-1132CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1111/j.1537-2995.2011.03297.xinfo:eu-repo/semantics/altIdentifier/doi/10.1111/j.1537-2995.2011.03297.xinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:45:31Zoai:ri.conicet.gov.ar:11336/268540instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:45:31.618CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
title Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
spellingShingle Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
Luján Brajovich, Melina Eliana
Rh SYSTEM
RHD ALLELES
WEAK D
PARTIAL D
title_short Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
title_full Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
title_fullStr Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
title_full_unstemmed Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
title_sort Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes
dc.creator.none.fl_str_mv Luján Brajovich, Melina Eliana
Trucco Boggione, Carolina
Biondi, Claudia Silvia
Racca, Amelia
Tarragó, Marcel
Nogués, Núria
Muñiz Díaz, Eduardo
Cotorruelo, Carlos Miguel
author Luján Brajovich, Melina Eliana
author_facet Luján Brajovich, Melina Eliana
Trucco Boggione, Carolina
Biondi, Claudia Silvia
Racca, Amelia
Tarragó, Marcel
Nogués, Núria
Muñiz Díaz, Eduardo
Cotorruelo, Carlos Miguel
author_role author
author2 Trucco Boggione, Carolina
Biondi, Claudia Silvia
Racca, Amelia
Tarragó, Marcel
Nogués, Núria
Muñiz Díaz, Eduardo
Cotorruelo, Carlos Miguel
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Rh SYSTEM
RHD ALLELES
WEAK D
PARTIAL D
topic Rh SYSTEM
RHD ALLELES
WEAK D
PARTIAL D
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv BACKGROUND: The serologic assignment of the D antigen status may be hindered in patients with weak D expression hampering clinical decision making in transfusion and obstetric medicine. A comprehensive study of RHD alleles occurring in the mixed population of Argentina is necessary to evaluate the most suitable DNA typing strategy. STUDY DESIGN AND METHODS: A total of 18378 patients from two stratified groups: G1 (public hospital) and G2 (private laboratory) were RhD phenotyped and 88 weakly reacting samples underwent molecular characterization. RESULTS: The frequency of D positive, D negative and variant D phenotypes differed significantly (p<0.001) between G1 and G2 (94.49% vs 87.66%, 5.15% vs 11.58%, 0.36% vs 0.75%, respectively). Eleven different alleles were responsible for the weak D expression. Approximately 60% of the weakly reacting samples from G1 and G2 were weak D types 1 through 4.0/4.2 and 25% were D category VII. RHD alleles associated with African ancestry were encountered in G1. A new G>A mutation at the D specific position -282 within the promoter region of DAU-4 and DOL alleles was identified. Three weak D type 1 samples with a ccee phenotype were found in G1. CONCLUSIONS: The D phenotype distribution found in G2 resembles that in Europeans while the frequencies in G1 may account for the Amerindian and African genetic contribution. The genotyping strategy used in this work is suitable to study the variant D phenotypes present in the overall population and could allow a better use of the few available D negative units as well as a more rationale administration of anti-D immunoglobulin. The results also show that weak D type 1 alleles do not exclusively segregate with a Ce allele, as assumed until present.
Fil: Luján Brajovich, Melina Eliana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Trucco Boggione, Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Biondi, Claudia Silvia. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Racca, Amelia. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Tarragó, Marcel. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Nogués, Núria. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Muñiz Díaz, Eduardo. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina
Fil: Cotorruelo, Carlos Miguel. Universidad Nacional de Rosario. Facultad de Cs.bioquímicas y Farmaceuticas. Departamento de Bioquímica Clinica. Laboratorio Inmunohemat. Histocompatib. E Inmunogenetica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina
description BACKGROUND: The serologic assignment of the D antigen status may be hindered in patients with weak D expression hampering clinical decision making in transfusion and obstetric medicine. A comprehensive study of RHD alleles occurring in the mixed population of Argentina is necessary to evaluate the most suitable DNA typing strategy. STUDY DESIGN AND METHODS: A total of 18378 patients from two stratified groups: G1 (public hospital) and G2 (private laboratory) were RhD phenotyped and 88 weakly reacting samples underwent molecular characterization. RESULTS: The frequency of D positive, D negative and variant D phenotypes differed significantly (p<0.001) between G1 and G2 (94.49% vs 87.66%, 5.15% vs 11.58%, 0.36% vs 0.75%, respectively). Eleven different alleles were responsible for the weak D expression. Approximately 60% of the weakly reacting samples from G1 and G2 were weak D types 1 through 4.0/4.2 and 25% were D category VII. RHD alleles associated with African ancestry were encountered in G1. A new G>A mutation at the D specific position -282 within the promoter region of DAU-4 and DOL alleles was identified. Three weak D type 1 samples with a ccee phenotype were found in G1. CONCLUSIONS: The D phenotype distribution found in G2 resembles that in Europeans while the frequencies in G1 may account for the Amerindian and African genetic contribution. The genotyping strategy used in this work is suitable to study the variant D phenotypes present in the overall population and could allow a better use of the few available D negative units as well as a more rationale administration of anti-D immunoglobulin. The results also show that weak D type 1 alleles do not exclusively segregate with a Ce allele, as assumed until present.
publishDate 2011
dc.date.none.fl_str_mv 2011-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/268540
Luján Brajovich, Melina Eliana; Trucco Boggione, Carolina; Biondi, Claudia Silvia; Racca, Amelia; Tarragó, Marcel ; et al.; Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes; Wiley Blackwell Publishing, Inc; Transfusion; 52; 2; 8-2011; 389-396
0041-1132
CONICET Digital
CONICET
url http://hdl.handle.net/11336/268540
identifier_str_mv Luján Brajovich, Melina Eliana; Trucco Boggione, Carolina; Biondi, Claudia Silvia; Racca, Amelia; Tarragó, Marcel ; et al.; Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes; Wiley Blackwell Publishing, Inc; Transfusion; 52; 2; 8-2011; 389-396
0041-1132
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
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info:eu-repo/semantics/altIdentifier/doi/10.1111/j.1537-2995.2011.03297.x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
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eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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