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Red cell abnormalities in a kindred with an uncommon form of hereditary spherocytosis

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dc.contributor.authorOlim, Gabriel
dc.contributor.authorMarques, Sandra
dc.contributor.authorSaldanha, Carlota
dc.contributor.authorSantos, Dulce
dc.contributor.authorBarroca, Paulo
dc.contributor.authorMartins e Silva, João
dc.date.accessioned2020-10-26T13:24:51Z
dc.date.available2020-10-26T13:24:51Z
dc.date.issued1985
dc.descriptionCopyright © Ordem dos Médicospt_PT
dc.description.abstractRed cell acetylcholinesterase (AChE) and Na, + K + - adenosinetriphosphatase (ATPase) activities, cell 2,3 - diphosphoglycerate (2,3 - DPG) and adenosinetriphosphate (ATP) content and filterability ratio were studied in two children (with moderate hemolytic anemia and marked spherocytosis) and their parents. Patients’ parents have no medical problem but evidenced discrete spherocytosis on peripheral smear. Except some increased apparent red cell rigidity detected in the father, all the parameters studied in both parents were found to be normal, as compared to healthy controls. In contrast, red cell rigidity, 2,3-DPG and ATP levels and Na, + K + ATPase activity were increased in both children, whereas AChE activity was similar to values of normal subjects. These observations suggest that both affected patients suffered from homozygous hereditary spherocytosis linked to an apparently recessively inherited red cell membrane defect.pt_PT
dc.description.sponsorshipThis study was supported in part by a grant from INIC (MbL2).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationActa Medica Portuguesa 1985; 6: 137-141pt_PT
dc.identifier.eissn1646-0758
dc.identifier.issn0870-399X
dc.identifier.urihttp://hdl.handle.net/10451/44658
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherOrdem dos Médicospt_PT
dc.relation.publisherversionhttps://www.actamedicaportuguesa.com/revista/index.php/amp/indexpt_PT
dc.relation.publisherversionhttps://www.actamedicaportuguesa.com/revista/index.php/amp/issue/view/263pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.titleRed cell abnormalities in a kindred with an uncommon form of hereditary spherocytosispt_PT
dc.title.alternativeAnomalias eritrocitárias em crianças portadoras de uma variedade rara de esferocitose hereditáriapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage141pt_PT
oaire.citation.startPage137pt_PT
oaire.citation.titleActa Médica Portuguesapt_PT
person.familyNameSaldanha
person.givenNameCarlota
person.identifier53901
person.identifier.orcid0000-0002-5058-2112
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationad6de30c-87ca-4613-bb87-488dd5d285d0
relation.isAuthorOfPublication.latestForDiscoveryad6de30c-87ca-4613-bb87-488dd5d285d0

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