Diagnostic approach to inherited thrombocytopenias in a low-income setting

Autores
Glembotsky, Ana Claudia; Goette, Nora Paula; Marin Oyarzún, Cecilia Paola; Baroni Pietto, Maria Constanza; Ayala, Daniela; Altuna, D.; Arrieta, M. E.; Bazak, N.; Bonaccorso, S.; Brodsky, A.; Donato, H.; Korin, J. D.; Lagrotta, P.; Negro, Fernando Javier; Ponzinibbio, Carlos; Veber, E.; Savoia, A.; Pecci, A.; Marta, Rosana Fernanda; Heller, Paula Graciela
Año de publicación
2020
Idioma
inglés
Tipo de recurso
documento de conferencia
Estado
versión publicada
Descripción
Background: Inherited thrombocytopenias (IT) remain a diagnostic challenge due to clinical and genetic heterogeneity. Although more than 30 genes have been identified, the underlying abnormality is unknown in half of the patients. Advent of next-generation technologies represented significant advances although access is limited in low-income economies. Aims:To rationalize resources for IT diagnosis in Argentina. Methods:First, we applied a diagnostic algorithm (Balduini, 2003) based on phenotypic characterization followed by candidate gene sequencing and, second, whole exome sequencing (WES) was performed in an international center in undiagnosed patients after this algorithm. Results:We included 114 patients from 50 pedigrees, 25 (0-73) years old, 68 (4-172) x109/L platelets; 68%, 30% and 2% had large, normal-sized and small platelets; 21% had syndromic forms: 11% hearing loss, 6% nephropathy, 7% hematologic malignancy, 2% myelofibrosis. By applying the algorithm, a conclusive diagnosis was reached in 27/50 (54%) pedigrees, 38% MYH9-RD; 4% Bernard-Soulier syndrome (1 monoallelic, 1 classic); 4% Gray Platelet Syndrome; 4% ANKRD26-RT; 2% FPD/AML; 2% Wiskott-Aldrich Syndrome. WES was undertaken in 8/23 (35%) pedigrees without diagnosis following the algorithm and known disorders were identified in 4 (1 FPD/AML, 1 ANKRD26-RT, 2 BSS:1 monoallelic, 1 biallelic), whereas no pathogenic variants in either known or new genes were detected in 4. Undiagnosed patients after the algorithm in whom WES was not performed suffered from mild isolated macrothrombocytopenia without distinctive features. Altogether, by this combined approach (algorithm+WES), a definitive diagnosis was identified in 31/50 (62%) pedigrees, which does not differ from the yield of NGS panels. ConclusionsIn conclusion, careful clinical phenotyping allowed diagnosis in a substantial proportion of patients and MYH9-RD was the disorder most easily recognized by the algorithm. Restricting the application of NGS to patients with negative results after the algorithm allowed to optimize resources and improved the diagnostic yield, representing a feasible approach in low-income settings.
Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Goette, Nora Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Marin Oyarzún, Cecilia Paola. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Baroni Pietto, Maria Constanza. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Ayala, Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Altuna, D.. Hospital Italiano; Argentina
Fil: Arrieta, M. E.. Hospital Público Descentralizado Dr. Guillermo Rawson.; Argentina
Fil: Bazak, N.. Hospital Zonal General de Agudos doctor Ricardo Gutierrez ; Gobierno de la Provincia de Buenos Aires;
Fil: Bonaccorso, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Brodsky, A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Donato, H.. Municipalidad de la Matanza (Buenos Aires). Hospital Municipal del Niño de San Justo; Argentina
Fil: Korin, J. D.. No especifíca;
Fil: Lagrotta, P.. Hospital Nacional Profesor Alejandro Posadas; Argentina
Fil: Negro, Fernando Javier. Sanatorio Sagrado Corazón, Buenos Aires; Argentina
Fil: Ponzinibbio, Carlos. Hospital Italiano de La Plata; Argentina
Fil: Veber, E.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Savoia, A.. Università degli Studi di Trieste; Italia
Fil: Pecci, A.. Universita degli Studi di Pavia; Italia
Fil: Marta, Rosana Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Virtual Congress of the International Society on Thrombosis and Haemostasis
Italia
International Society on Thrombosis and Haemostasis
Materia
Platelets
Inherited Thrombocytopenias
NGS
WES
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/240910

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spelling Diagnostic approach to inherited thrombocytopenias in a low-income settingGlembotsky, Ana ClaudiaGoette, Nora PaulaMarin Oyarzún, Cecilia PaolaBaroni Pietto, Maria ConstanzaAyala, DanielaAltuna, D.Arrieta, M. E.Bazak, N.Bonaccorso, S.Brodsky, A.Donato, H.Korin, J. D.Lagrotta, P.Negro, Fernando JavierPonzinibbio, CarlosVeber, E.Savoia, A.Pecci, A.Marta, Rosana FernandaHeller, Paula GracielaPlateletsInherited ThrombocytopeniasNGSWEShttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Background: Inherited thrombocytopenias (IT) remain a diagnostic challenge due to clinical and genetic heterogeneity. Although more than 30 genes have been identified, the underlying abnormality is unknown in half of the patients. Advent of next-generation technologies represented significant advances although access is limited in low-income economies. Aims:To rationalize resources for IT diagnosis in Argentina. Methods:First, we applied a diagnostic algorithm (Balduini, 2003) based on phenotypic characterization followed by candidate gene sequencing and, second, whole exome sequencing (WES) was performed in an international center in undiagnosed patients after this algorithm. Results:We included 114 patients from 50 pedigrees, 25 (0-73) years old, 68 (4-172) x109/L platelets; 68%, 30% and 2% had large, normal-sized and small platelets; 21% had syndromic forms: 11% hearing loss, 6% nephropathy, 7% hematologic malignancy, 2% myelofibrosis. By applying the algorithm, a conclusive diagnosis was reached in 27/50 (54%) pedigrees, 38% MYH9-RD; 4% Bernard-Soulier syndrome (1 monoallelic, 1 classic); 4% Gray Platelet Syndrome; 4% ANKRD26-RT; 2% FPD/AML; 2% Wiskott-Aldrich Syndrome. WES was undertaken in 8/23 (35%) pedigrees without diagnosis following the algorithm and known disorders were identified in 4 (1 FPD/AML, 1 ANKRD26-RT, 2 BSS:1 monoallelic, 1 biallelic), whereas no pathogenic variants in either known or new genes were detected in 4. Undiagnosed patients after the algorithm in whom WES was not performed suffered from mild isolated macrothrombocytopenia without distinctive features. Altogether, by this combined approach (algorithm+WES), a definitive diagnosis was identified in 31/50 (62%) pedigrees, which does not differ from the yield of NGS panels. ConclusionsIn conclusion, careful clinical phenotyping allowed diagnosis in a substantial proportion of patients and MYH9-RD was the disorder most easily recognized by the algorithm. Restricting the application of NGS to patients with negative results after the algorithm allowed to optimize resources and improved the diagnostic yield, representing a feasible approach in low-income settings.Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Goette, Nora Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Marin Oyarzún, Cecilia Paola. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Baroni Pietto, Maria Constanza. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Ayala, Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Altuna, D.. Hospital Italiano; ArgentinaFil: Arrieta, M. E.. Hospital Público Descentralizado Dr. Guillermo Rawson.; ArgentinaFil: Bazak, N.. Hospital Zonal General de Agudos doctor Ricardo Gutierrez ; Gobierno de la Provincia de Buenos Aires;Fil: Bonaccorso, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Brodsky, A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Donato, H.. Municipalidad de la Matanza (Buenos Aires). Hospital Municipal del Niño de San Justo; ArgentinaFil: Korin, J. D.. No especifíca;Fil: Lagrotta, P.. Hospital Nacional Profesor Alejandro Posadas; ArgentinaFil: Negro, Fernando Javier. Sanatorio Sagrado Corazón, Buenos Aires; ArgentinaFil: Ponzinibbio, Carlos. Hospital Italiano de La Plata; ArgentinaFil: Veber, E.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); ArgentinaFil: Savoia, A.. Università degli Studi di Trieste; ItaliaFil: Pecci, A.. Universita degli Studi di Pavia; ItaliaFil: Marta, Rosana Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaVirtual Congress of the International Society on Thrombosis and HaemostasisItaliaInternational Society on Thrombosis and HaemostasisElsevier2020info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/conferenceObjectCongresoJournalhttp://purl.org/coar/resource_type/c_5794info:ar-repo/semantics/documentoDeConferenciaapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/240910Diagnostic approach to inherited thrombocytopenias in a low-income setting; Virtual Congress of the International Society on Thrombosis and Haemostasis; Italia; 2020; 1-12475-0379CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1002/rth2.12393Internacionalinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:10:09Zoai:ri.conicet.gov.ar:11336/240910instacron: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:34982025-09-03 10:10:09.308CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Diagnostic approach to inherited thrombocytopenias in a low-income setting
title Diagnostic approach to inherited thrombocytopenias in a low-income setting
spellingShingle Diagnostic approach to inherited thrombocytopenias in a low-income setting
Glembotsky, Ana Claudia
Platelets
Inherited Thrombocytopenias
NGS
WES
title_short Diagnostic approach to inherited thrombocytopenias in a low-income setting
title_full Diagnostic approach to inherited thrombocytopenias in a low-income setting
title_fullStr Diagnostic approach to inherited thrombocytopenias in a low-income setting
title_full_unstemmed Diagnostic approach to inherited thrombocytopenias in a low-income setting
title_sort Diagnostic approach to inherited thrombocytopenias in a low-income setting
dc.creator.none.fl_str_mv Glembotsky, Ana Claudia
Goette, Nora Paula
Marin Oyarzún, Cecilia Paola
Baroni Pietto, Maria Constanza
Ayala, Daniela
Altuna, D.
Arrieta, M. E.
Bazak, N.
Bonaccorso, S.
Brodsky, A.
Donato, H.
Korin, J. D.
Lagrotta, P.
Negro, Fernando Javier
Ponzinibbio, Carlos
Veber, E.
Savoia, A.
Pecci, A.
Marta, Rosana Fernanda
Heller, Paula Graciela
author Glembotsky, Ana Claudia
author_facet Glembotsky, Ana Claudia
Goette, Nora Paula
Marin Oyarzún, Cecilia Paola
Baroni Pietto, Maria Constanza
Ayala, Daniela
Altuna, D.
Arrieta, M. E.
Bazak, N.
Bonaccorso, S.
Brodsky, A.
Donato, H.
Korin, J. D.
Lagrotta, P.
Negro, Fernando Javier
Ponzinibbio, Carlos
Veber, E.
Savoia, A.
Pecci, A.
Marta, Rosana Fernanda
Heller, Paula Graciela
author_role author
author2 Goette, Nora Paula
Marin Oyarzún, Cecilia Paola
Baroni Pietto, Maria Constanza
Ayala, Daniela
Altuna, D.
Arrieta, M. E.
Bazak, N.
Bonaccorso, S.
Brodsky, A.
Donato, H.
Korin, J. D.
Lagrotta, P.
Negro, Fernando Javier
Ponzinibbio, Carlos
Veber, E.
Savoia, A.
Pecci, A.
Marta, Rosana Fernanda
Heller, Paula Graciela
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Platelets
Inherited Thrombocytopenias
NGS
WES
topic Platelets
Inherited Thrombocytopenias
NGS
WES
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: Inherited thrombocytopenias (IT) remain a diagnostic challenge due to clinical and genetic heterogeneity. Although more than 30 genes have been identified, the underlying abnormality is unknown in half of the patients. Advent of next-generation technologies represented significant advances although access is limited in low-income economies. Aims:To rationalize resources for IT diagnosis in Argentina. Methods:First, we applied a diagnostic algorithm (Balduini, 2003) based on phenotypic characterization followed by candidate gene sequencing and, second, whole exome sequencing (WES) was performed in an international center in undiagnosed patients after this algorithm. Results:We included 114 patients from 50 pedigrees, 25 (0-73) years old, 68 (4-172) x109/L platelets; 68%, 30% and 2% had large, normal-sized and small platelets; 21% had syndromic forms: 11% hearing loss, 6% nephropathy, 7% hematologic malignancy, 2% myelofibrosis. By applying the algorithm, a conclusive diagnosis was reached in 27/50 (54%) pedigrees, 38% MYH9-RD; 4% Bernard-Soulier syndrome (1 monoallelic, 1 classic); 4% Gray Platelet Syndrome; 4% ANKRD26-RT; 2% FPD/AML; 2% Wiskott-Aldrich Syndrome. WES was undertaken in 8/23 (35%) pedigrees without diagnosis following the algorithm and known disorders were identified in 4 (1 FPD/AML, 1 ANKRD26-RT, 2 BSS:1 monoallelic, 1 biallelic), whereas no pathogenic variants in either known or new genes were detected in 4. Undiagnosed patients after the algorithm in whom WES was not performed suffered from mild isolated macrothrombocytopenia without distinctive features. Altogether, by this combined approach (algorithm+WES), a definitive diagnosis was identified in 31/50 (62%) pedigrees, which does not differ from the yield of NGS panels. ConclusionsIn conclusion, careful clinical phenotyping allowed diagnosis in a substantial proportion of patients and MYH9-RD was the disorder most easily recognized by the algorithm. Restricting the application of NGS to patients with negative results after the algorithm allowed to optimize resources and improved the diagnostic yield, representing a feasible approach in low-income settings.
Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Goette, Nora Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Marin Oyarzún, Cecilia Paola. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Baroni Pietto, Maria Constanza. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Ayala, Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Altuna, D.. Hospital Italiano; Argentina
Fil: Arrieta, M. E.. Hospital Público Descentralizado Dr. Guillermo Rawson.; Argentina
Fil: Bazak, N.. Hospital Zonal General de Agudos doctor Ricardo Gutierrez ; Gobierno de la Provincia de Buenos Aires;
Fil: Bonaccorso, S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Brodsky, A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Donato, H.. Municipalidad de la Matanza (Buenos Aires). Hospital Municipal del Niño de San Justo; Argentina
Fil: Korin, J. D.. No especifíca;
Fil: Lagrotta, P.. Hospital Nacional Profesor Alejandro Posadas; Argentina
Fil: Negro, Fernando Javier. Sanatorio Sagrado Corazón, Buenos Aires; Argentina
Fil: Ponzinibbio, Carlos. Hospital Italiano de La Plata; Argentina
Fil: Veber, E.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Savoia, A.. Università degli Studi di Trieste; Italia
Fil: Pecci, A.. Universita degli Studi di Pavia; Italia
Fil: Marta, Rosana Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Virtual Congress of the International Society on Thrombosis and Haemostasis
Italia
International Society on Thrombosis and Haemostasis
description Background: Inherited thrombocytopenias (IT) remain a diagnostic challenge due to clinical and genetic heterogeneity. Although more than 30 genes have been identified, the underlying abnormality is unknown in half of the patients. Advent of next-generation technologies represented significant advances although access is limited in low-income economies. Aims:To rationalize resources for IT diagnosis in Argentina. Methods:First, we applied a diagnostic algorithm (Balduini, 2003) based on phenotypic characterization followed by candidate gene sequencing and, second, whole exome sequencing (WES) was performed in an international center in undiagnosed patients after this algorithm. Results:We included 114 patients from 50 pedigrees, 25 (0-73) years old, 68 (4-172) x109/L platelets; 68%, 30% and 2% had large, normal-sized and small platelets; 21% had syndromic forms: 11% hearing loss, 6% nephropathy, 7% hematologic malignancy, 2% myelofibrosis. By applying the algorithm, a conclusive diagnosis was reached in 27/50 (54%) pedigrees, 38% MYH9-RD; 4% Bernard-Soulier syndrome (1 monoallelic, 1 classic); 4% Gray Platelet Syndrome; 4% ANKRD26-RT; 2% FPD/AML; 2% Wiskott-Aldrich Syndrome. WES was undertaken in 8/23 (35%) pedigrees without diagnosis following the algorithm and known disorders were identified in 4 (1 FPD/AML, 1 ANKRD26-RT, 2 BSS:1 monoallelic, 1 biallelic), whereas no pathogenic variants in either known or new genes were detected in 4. Undiagnosed patients after the algorithm in whom WES was not performed suffered from mild isolated macrothrombocytopenia without distinctive features. Altogether, by this combined approach (algorithm+WES), a definitive diagnosis was identified in 31/50 (62%) pedigrees, which does not differ from the yield of NGS panels. ConclusionsIn conclusion, careful clinical phenotyping allowed diagnosis in a substantial proportion of patients and MYH9-RD was the disorder most easily recognized by the algorithm. Restricting the application of NGS to patients with negative results after the algorithm allowed to optimize resources and improved the diagnostic yield, representing a feasible approach in low-income settings.
publishDate 2020
dc.date.none.fl_str_mv 2020
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Diagnostic approach to inherited thrombocytopenias in a low-income setting; Virtual Congress of the International Society on Thrombosis and Haemostasis; Italia; 2020; 1-1
2475-0379
CONICET Digital
CONICET
url http://hdl.handle.net/11336/240910
identifier_str_mv Diagnostic approach to inherited thrombocytopenias in a low-income setting; Virtual Congress of the International Society on Thrombosis and Haemostasis; Italia; 2020; 1-1
2475-0379
CONICET Digital
CONICET
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