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

Lima, Margarida

Publication

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

2020-03-10Journal article

dc.contributor.author	Lima, Margarida
dc.date.accessioned	2022-07-11T14:45:35Z
dc.date.available	2022-07-11T14:45:35Z
dc.date.issued	2020-03-10
dc.description.abstract	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.	pt_PT
dc.description.version	info:eu-repo/semantics/publishedVersion	pt_PT
dc.identifier.citation	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	pt_PT
dc.identifier.doi	10.1016/j.plabm.2020.e00158	pt_PT
dc.identifier.issn	2352-5517
dc.identifier.uri	http://hdl.handle.net/10400.16/2697
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.publisher	Elsevier	pt_PT
dc.relation.publisherversion	https://www.sciencedirect.com/science/article/pii/S2352551719300927?via%3Dihub	pt_PT
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0/	pt_PT
dc.subject	Bone marrow failure syndromes	pt_PT
dc.subject	Flow cytometry	pt_PT
dc.subject	Glycosylphosphatidylinositol	pt_PT
dc.subject	Intravascular hemolysis	pt_PT
dc.subject	PNH	pt_PT
dc.subject	Paroxysmal nocturnal hemoglobinuria	pt_PT
dc.title	Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry	pt_PT
dc.type	journal article
dspace.entity.type	Publication
oaire.citation.conferencePlace	Netherlands	pt_PT
oaire.citation.startPage	e00158	pt_PT
oaire.citation.title	Practical Laboratory Medicine	pt_PT
oaire.citation.volume	20	pt_PT
rcaap.rights	openAccess	pt_PT
rcaap.type	article	pt_PT