International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

Autores
Glembotsky, Ana Claudia; Marta, Rosana Fernanda; Pecci, Alessandro; de Rocco, Daniela; Gnan, Chiara; Espasandin, Yesica Romina; Goette, Nora Paula; Negro, F.; Noris, Patrizia; Savoia, Anna; Balduini, C. L.; Molinas, Felisa Concepción; Heller, Paula Graciela
Año de publicación
2012
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited settings. To overcome this difficulty, we applied a diagnostic algorithm and developed a collaboration program with a specialized international center in order to increase the diagnostic yield in a cohort of patients in Argentina. Methods: Based on the algorithm, initial evaluation included collection of clinical data, platelet size, blood smear examination and platelet aggregation tests. Confirmatory tests were performed according to diagnostic suspicion, which included platelet glycoprotein expression, immunofluorescence for myosin- 9 in granulocytes and platelet thrombospondin-1 and molecular screening of candidate genes. Results: Thirty-one patients from 14 pedigrees were included; their median age was 32 (4?72) years and platelet count 72 (4?147) · 109 L)1. Autosomal dominant inheritance was found in nine (64%) pedigrees; 10 (71%) had large platelets and nine (29%) patients presented with syndromic forms. A definitive diagnosis was made in 10 of 14 pedigrees and comprised MYH9-related disease in four, while classic and monoallelic Bernard?Soulier syndrome, gray platelet syndrome, X-linked thrombocytopenia, thrombocytopenia 2 (ANKRD26 mutation) and familial platelet disorder with predisposition to acute myelogenous leukemia were diagnosed in one pedigree each. Conclusions: Adoption of an established diagnostic algorithm and collaboration with an expert referral center proved useful for diagnosis of IT patients in the setting of a developing country. This initiative may serve as a model to develop international networks with the goal of improving diagnosis and care of patients with these rare diseases.
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: 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: Pecci, Alessandro. Universita Degli Studi Di Pavia; Italia
Fil: de Rocco, Daniela. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia
Fil: Gnan, Chiara. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia
Fil: Espasandin, Yesica Romina. 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: Negro, F.. Instituto Médico Sagrado Corazón; Argentina
Fil: Noris, Patrizia. Universita Degli Studi Di Pavia; Italia
Fil: Savoia, Anna. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia. Università degli Studi di Trieste; Italia
Fil: Balduini, C. L.. Universita Degli Studi Di Pavia; Italia
Fil: Molinas, Felisa Concepción. 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
Materia
Inherited thrombocytopenia
Platelet disorders
MNKRD26 mutation
Gray platelet syndrome
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:11336/106926
Acceder
id CONICETDig_af77d17bb8c2f9adbcc9909959abef32
oai_identifier_str oai:ri.conicet.gov.ar:11336/106926
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing countryGlembotsky, Ana ClaudiaMarta, Rosana FernandaPecci, Alessandrode Rocco, DanielaGnan, ChiaraEspasandin, Yesica RominaGoette, Nora PaulaNegro, F.Noris, PatriziaSavoia, AnnaBalduini, C. L.Molinas, Felisa ConcepciónHeller, Paula GracielaInherited thrombocytopeniaPlatelet disordersMNKRD26 mutationGray platelet syndromehttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited settings. To overcome this difficulty, we applied a diagnostic algorithm and developed a collaboration program with a specialized international center in order to increase the diagnostic yield in a cohort of patients in Argentina. Methods: Based on the algorithm, initial evaluation included collection of clinical data, platelet size, blood smear examination and platelet aggregation tests. Confirmatory tests were performed according to diagnostic suspicion, which included platelet glycoprotein expression, immunofluorescence for myosin- 9 in granulocytes and platelet thrombospondin-1 and molecular screening of candidate genes. Results: Thirty-one patients from 14 pedigrees were included; their median age was 32 (4?72) years and platelet count 72 (4?147) · 109 L)1. Autosomal dominant inheritance was found in nine (64%) pedigrees; 10 (71%) had large platelets and nine (29%) patients presented with syndromic forms. A definitive diagnosis was made in 10 of 14 pedigrees and comprised MYH9-related disease in four, while classic and monoallelic Bernard?Soulier syndrome, gray platelet syndrome, X-linked thrombocytopenia, thrombocytopenia 2 (ANKRD26 mutation) and familial platelet disorder with predisposition to acute myelogenous leukemia were diagnosed in one pedigree each. Conclusions: Adoption of an established diagnostic algorithm and collaboration with an expert referral center proved useful for diagnosis of IT patients in the setting of a developing country. This initiative may serve as a model to develop international networks with the goal of improving diagnosis and care of patients with these rare diseases.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: 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: Pecci, Alessandro. Universita Degli Studi Di Pavia; ItaliaFil: de Rocco, Daniela. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; ItaliaFil: Gnan, Chiara. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; ItaliaFil: Espasandin, Yesica Romina. 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: Negro, F.. Instituto Médico Sagrado Corazón; ArgentinaFil: Noris, Patrizia. Universita Degli Studi Di Pavia; ItaliaFil: Savoia, Anna. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia. Università degli Studi di Trieste; ItaliaFil: Balduini, C. L.. Universita Degli Studi Di Pavia; ItaliaFil: Molinas, Felisa Concepción. 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; ArgentinaWiley Blackwell Publishing, Inc2012-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/106926Glembotsky, Ana Claudia; Marta, Rosana Fernanda; Pecci, Alessandro; de Rocco, Daniela; Gnan, Chiara; et al.; International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country; Wiley Blackwell Publishing, Inc; Journal of Thrombosis and Haemostasis; 10; 8; 8-2012; 1653-16611538-7933CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2012.04805.xinfo:eu-repo/semantics/altIdentifier/url/https://pubmed.ncbi.nlm.nih.gov/22672365/info:eu-repo/semantics/altIdentifier/doi/10.1111/j.1538-7836.2012.04805.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 Técnicas2025-09-03T09:52:28Zoai:ri.conicet.gov.ar:11336/106926instacron: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 09:52:29.223CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
title International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
spellingShingle International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
Glembotsky, Ana Claudia
Inherited thrombocytopenia
Platelet disorders
MNKRD26 mutation
Gray platelet syndrome
title_short International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
title_full International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
title_fullStr International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
title_full_unstemmed International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
title_sort International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
dc.creator.none.fl_str_mv Glembotsky, Ana Claudia
Marta, Rosana Fernanda
Pecci, Alessandro
de Rocco, Daniela
Gnan, Chiara
Espasandin, Yesica Romina
Goette, Nora Paula
Negro, F.
Noris, Patrizia
Savoia, Anna
Balduini, C. L.
Molinas, Felisa Concepción
Heller, Paula Graciela
author Glembotsky, Ana Claudia
author_facet Glembotsky, Ana Claudia
Marta, Rosana Fernanda
Pecci, Alessandro
de Rocco, Daniela
Gnan, Chiara
Espasandin, Yesica Romina
Goette, Nora Paula
Negro, F.
Noris, Patrizia
Savoia, Anna
Balduini, C. L.
Molinas, Felisa Concepción
Heller, Paula Graciela
author_role author
author2 Marta, Rosana Fernanda
Pecci, Alessandro
de Rocco, Daniela
Gnan, Chiara
Espasandin, Yesica Romina
Goette, Nora Paula
Negro, F.
Noris, Patrizia
Savoia, Anna
Balduini, C. L.
Molinas, Felisa Concepción
Heller, Paula Graciela
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Inherited thrombocytopenia
Platelet disorders
MNKRD26 mutation
Gray platelet syndrome
topic Inherited thrombocytopenia
Platelet disorders
MNKRD26 mutation
Gray platelet syndrome
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited settings. To overcome this difficulty, we applied a diagnostic algorithm and developed a collaboration program with a specialized international center in order to increase the diagnostic yield in a cohort of patients in Argentina. Methods: Based on the algorithm, initial evaluation included collection of clinical data, platelet size, blood smear examination and platelet aggregation tests. Confirmatory tests were performed according to diagnostic suspicion, which included platelet glycoprotein expression, immunofluorescence for myosin- 9 in granulocytes and platelet thrombospondin-1 and molecular screening of candidate genes. Results: Thirty-one patients from 14 pedigrees were included; their median age was 32 (4?72) years and platelet count 72 (4?147) · 109 L)1. Autosomal dominant inheritance was found in nine (64%) pedigrees; 10 (71%) had large platelets and nine (29%) patients presented with syndromic forms. A definitive diagnosis was made in 10 of 14 pedigrees and comprised MYH9-related disease in four, while classic and monoallelic Bernard?Soulier syndrome, gray platelet syndrome, X-linked thrombocytopenia, thrombocytopenia 2 (ANKRD26 mutation) and familial platelet disorder with predisposition to acute myelogenous leukemia were diagnosed in one pedigree each. Conclusions: Adoption of an established diagnostic algorithm and collaboration with an expert referral center proved useful for diagnosis of IT patients in the setting of a developing country. This initiative may serve as a model to develop international networks with the goal of improving diagnosis and care of patients with these rare diseases.
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: 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: Pecci, Alessandro. Universita Degli Studi Di Pavia; Italia
Fil: de Rocco, Daniela. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia
Fil: Gnan, Chiara. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia
Fil: Espasandin, Yesica Romina. 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: Negro, F.. Instituto Médico Sagrado Corazón; Argentina
Fil: Noris, Patrizia. Universita Degli Studi Di Pavia; Italia
Fil: Savoia, Anna. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia. Università degli Studi di Trieste; Italia
Fil: Balduini, C. L.. Universita Degli Studi Di Pavia; Italia
Fil: Molinas, Felisa Concepción. 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
description Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited settings. To overcome this difficulty, we applied a diagnostic algorithm and developed a collaboration program with a specialized international center in order to increase the diagnostic yield in a cohort of patients in Argentina. Methods: Based on the algorithm, initial evaluation included collection of clinical data, platelet size, blood smear examination and platelet aggregation tests. Confirmatory tests were performed according to diagnostic suspicion, which included platelet glycoprotein expression, immunofluorescence for myosin- 9 in granulocytes and platelet thrombospondin-1 and molecular screening of candidate genes. Results: Thirty-one patients from 14 pedigrees were included; their median age was 32 (4?72) years and platelet count 72 (4?147) · 109 L)1. Autosomal dominant inheritance was found in nine (64%) pedigrees; 10 (71%) had large platelets and nine (29%) patients presented with syndromic forms. A definitive diagnosis was made in 10 of 14 pedigrees and comprised MYH9-related disease in four, while classic and monoallelic Bernard?Soulier syndrome, gray platelet syndrome, X-linked thrombocytopenia, thrombocytopenia 2 (ANKRD26 mutation) and familial platelet disorder with predisposition to acute myelogenous leukemia were diagnosed in one pedigree each. Conclusions: Adoption of an established diagnostic algorithm and collaboration with an expert referral center proved useful for diagnosis of IT patients in the setting of a developing country. This initiative may serve as a model to develop international networks with the goal of improving diagnosis and care of patients with these rare diseases.
publishDate 2012
dc.date.none.fl_str_mv 2012-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
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info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/106926
Glembotsky, Ana Claudia; Marta, Rosana Fernanda; Pecci, Alessandro; de Rocco, Daniela; Gnan, Chiara; et al.; International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country; Wiley Blackwell Publishing, Inc; Journal of Thrombosis and Haemostasis; 10; 8; 8-2012; 1653-1661
1538-7933
CONICET Digital
CONICET
url http://hdl.handle.net/11336/106926
identifier_str_mv Glembotsky, Ana Claudia; Marta, Rosana Fernanda; Pecci, Alessandro; de Rocco, Daniela; Gnan, Chiara; et al.; International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country; Wiley Blackwell Publishing, Inc; Journal of Thrombosis and Haemostasis; 10; 8; 8-2012; 1653-1661
1538-7933
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.1538-7836.2012.04805.x
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dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
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repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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