Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry

Detalhes bibliográficos
Autor(a) principal: Lima, Margarida
Data de Publicação: 2020
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/2697
Resumo: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder caused by somatic mutations in the PIG-A gene, leading to the production of blood cells with absent or decreased expression of glycosylphosphatidylinositol-anchored proteins, including CD55 and CD59. Clinically, PNH is classified into three variants: classic (hemolytic), in the setting of another specified bone marrow disorder (such as aplastic anemia or myelodysplastic syndrome) and subclinical (asymptomatic). PNH testing is recommended for patients with intravascular hemolysis, acquired bone marrow failure syndromes and thrombosis with unusual features. Despite the availability of consensus guidelines for PNH diagnosis and monitoring, there are still discrepancies on how PNH tests are carried out, and these technical variations may lead to an incorrect diagnosis. Herein, we provide a brief historical overview of PNH, focusing on the laboratory tests available and on the current recommendations for PNH diagnosis and monitoring based in flow cytometry.
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spelling Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometryBone marrow failure syndromesFlow cytometryGlycosylphosphatidylinositolIntravascular hemolysisPNHParoxysmal nocturnal hemoglobinuriaParoxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder caused by somatic mutations in the PIG-A gene, leading to the production of blood cells with absent or decreased expression of glycosylphosphatidylinositol-anchored proteins, including CD55 and CD59. Clinically, PNH is classified into three variants: classic (hemolytic), in the setting of another specified bone marrow disorder (such as aplastic anemia or myelodysplastic syndrome) and subclinical (asymptomatic). PNH testing is recommended for patients with intravascular hemolysis, acquired bone marrow failure syndromes and thrombosis with unusual features. Despite the availability of consensus guidelines for PNH diagnosis and monitoring, there are still discrepancies on how PNH tests are carried out, and these technical variations may lead to an incorrect diagnosis. Herein, we provide a brief historical overview of PNH, focusing on the laboratory tests available and on the current recommendations for PNH diagnosis and monitoring based in flow cytometry.ElsevierRepositório Científico do Centro Hospitalar Universitário de Santo AntónioLima, Margarida2022-07-11T14:45:35Z2020-03-102020-03-10T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2697engLima M. Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry. Pract Lab Med. 2020;20:e00158. doi:10.1016/j.plabm.2020.e001582352-551710.1016/j.plabm.2020.e00158info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T11:01:45Zoai:repositorio.chporto.pt:10400.16/2697Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:53.523772Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
title Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
spellingShingle Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
Lima, Margarida
Bone marrow failure syndromes
Flow cytometry
Glycosylphosphatidylinositol
Intravascular hemolysis
PNH
Paroxysmal nocturnal hemoglobinuria
title_short Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
title_full Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
title_fullStr Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
title_full_unstemmed Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
title_sort Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry
author Lima, Margarida
author_facet Lima, Margarida
author_role author
dc.contributor.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Lima, Margarida
dc.subject.por.fl_str_mv Bone marrow failure syndromes
Flow cytometry
Glycosylphosphatidylinositol
Intravascular hemolysis
PNH
Paroxysmal nocturnal hemoglobinuria
topic Bone marrow failure syndromes
Flow cytometry
Glycosylphosphatidylinositol
Intravascular hemolysis
PNH
Paroxysmal nocturnal hemoglobinuria
description Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder caused by somatic mutations in the PIG-A gene, leading to the production of blood cells with absent or decreased expression of glycosylphosphatidylinositol-anchored proteins, including CD55 and CD59. Clinically, PNH is classified into three variants: classic (hemolytic), in the setting of another specified bone marrow disorder (such as aplastic anemia or myelodysplastic syndrome) and subclinical (asymptomatic). PNH testing is recommended for patients with intravascular hemolysis, acquired bone marrow failure syndromes and thrombosis with unusual features. Despite the availability of consensus guidelines for PNH diagnosis and monitoring, there are still discrepancies on how PNH tests are carried out, and these technical variations may lead to an incorrect diagnosis. Herein, we provide a brief historical overview of PNH, focusing on the laboratory tests available and on the current recommendations for PNH diagnosis and monitoring based in flow cytometry.
publishDate 2020
dc.date.none.fl_str_mv 2020-03-10
2020-03-10T00:00:00Z
2022-07-11T14:45:35Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.16/2697
url http://hdl.handle.net/10400.16/2697
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Lima M. Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry. Pract Lab Med. 2020;20:e00158. doi:10.1016/j.plabm.2020.e00158
2352-5517
10.1016/j.plabm.2020.e00158
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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