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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorPetkova-Kirova, Polina
dc.contributor.authorHertz, Laura
dc.contributor.authorDanielczok, Jens
dc.contributor.authorHuisjes, Rick
dc.contributor.authorMakhro, Asya
dc.contributor.authorBogdanova, Anna
dc.contributor.authorMañu Pereira, M Mar
dc.date.accessioned2019-06-26T10:55:42Z
dc.date.available2019-06-26T10:55:42Z
dc.date.issued2019-04-16
dc.identifier.citationPetkova-Kirova P, Hertz L, Danielczok J, Huisjes R, Makhro A, Bogdanova A, et al. Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias. Front Physiol. 2019;10:386.
dc.identifier.issn1664-042X
dc.identifier.urihttp://hdl.handle.net/11351/4154
dc.descriptionElectrophysiology; Haemolytic anemia; Hereditary spherocytosis
dc.descriptionElectrofisiologia; Anemia hemolítica; Esferocitosi hereditaria
dc.description.abstractCongenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic enzyme deficiencies. In many cases, although the causing mutation might be known, the pathophysiology and the connection between the particular mutation and the symptoms of the disease are not completely understood. Thus effective treatment is lagging behind. As in many cases abnormal red blood cell cation content and cation leaks go along with the disease, by direct electrophysiological measurements of the general conductance of red blood cells, we aimed to assess if changes in the membrane conductance could be a possible cause. We recorded whole-cell currents from 29 patients with different types of congenital haemolytic anaemias: 14 with hereditary spherocytosis due to mutations in α-spectrin, β-spectrin, ankyrin and band 3 protein; 6 patients with hereditary xerocytosis due to mutations in Piezo1; 6 patients with enzymatic disorders (3 patients with glucose-6-phosphate dehydrogenase deficiency, 1 patient with pyruvate kinase deficiency, 1 patient with glutamate-cysteine ligase deficiency and 1 patient with glutathione reductase deficiency), 1 patient with β-thalassemia and 2 patients, carriers of several mutations and a complex genotype. While the patients with β-thalassemia and metabolic enzyme deficiencies showed no changes in their membrane conductance, the patients with hereditary spherocytosis and hereditary xerocytosis showed largely variable results depending on the underlying mutation.
dc.language.isoeng
dc.publisherFrontiers Media
dc.relation.ispartofseriesFrontiers in Physiology;10
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectAnèmia hemolítica - Aspectes genètics
dc.subjectEritròcits - Fisiologia patològica
dc.subjectMembranes cel·lulars - Permeabilitat
dc.subject.meshAnemia, Hemolytic, Congenital
dc.subject.meshErythrocytes
dc.subject.mesh/physiopathology
dc.subject.meshCell Membrane Permeability
dc.titleRed Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3389/fphys.2019.00386
dc.subject.decsanemia hemolítica congénita
dc.subject.decseritrocitos
dc.subject.decs/fisiopatología
dc.subject.decspermeabilidad de la membrana celular
dc.relation.publishversionhttps://www.frontiersin.org/articles/10.3389/fphys.2019.00386/full
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Petkova-Kirova P] Institute of Molecular Cell Biology, Saarland University, Homburg, Germany. [Hertz L] Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany. Experimental Physics, Saarland University, Saarbrücken, Germany. [Danielczok J] Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany. [Huisjes R] Department of Clinical Chemistry & Haematology, University Medical Center Utrecht, Utrecht, Netherlands. [Makhro A, Bogdanova A] Red Blood Cell Research Group, Institute of Veterinary Physiology, Vetsuisse Faculty, Zurich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zurich, Switzerland. [Mañú-Pereira MDM] Vall d’Hebron Institut de Recerca, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain.
dc.identifier.pmid31040790
dc.identifier.wosWOS:000465090400001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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