Repository logo
 
Publication

Erythrocyte membrane protein destabilization versus clinical outcome in 160 portuguese hereditary spherocytosis patients

2010Journal article Restricted access
Simple item page
dc.contributor.authorRocha, Susana
dc.contributor.authorCosta, Elísio
dc.contributor.authorRocha-Pereira, Petronila
dc.contributor.authorFerreira, Fátima
dc.contributor.authorCleto, Esmeralda
dc.contributor.authorBarbot, José
dc.contributor.authorQuintanilha, Alexandre
dc.contributor.authorBelo, Luis
dc.contributor.authorSantos-Silva, Alice
dc.date.accessioned2011-06-09T10:51:35Z
dc.date.available2011-06-09T10:51:35Z
dc.date.issued2010
dc.description.abstractHereditary Spherocytosis (HS) is a haemolytic anaemia caused by erythrocyte protein membrane defects - spectrin, ankyrin, band 3 or protein 4.2 - that lead to membrane destabilization. This study aimed to evaluate the prevalence of protein deficiencies and the role of membrane proteins or membrane-linked proteins in membrane disturbance and in HS clinical outcome. A total of 215 Portuguese individuals were studied - 203 from 71 families plus 12 individual unrelated subjects; 160 of them were diagnosed with HS. They were classified as presenting mild, moderate or severe forms of HS according to the degree of haemolytic anaemia. Standardized electrophoretic erythrocyte membrane protein analysis was used to identify and quantify protein deficiencies. Band 3 and ankyrin were found to account for the majority of the erythrocyte protein defects underlying HS. Increasing isolated protein deficiency or increasing imbalance between combined protein deficiencies seemed to underlie HS severity, by increasing membrane destabilization. There was an increased membrane linkage of the cytosolic proteins, glyceraldehyde-3-phosphate dehydrogenase and peroxiredoxin 2, and of denatured haemoglobin, suggesting that this linkage could interfere with membrane structure. Our data suggest that the quantification and the analysis of RBC membrane proteins may be helpful in predicting the clinical outcome of HS.por
dc.description.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.citationCOSTA, Elísio - Erythrocyte membrane protein destabilization versus clinical outcome in 160 portuguese hereditary spherocytosis patients. British Journal of Haematology. ISSN 0007-1048. Vol. 149, n.º 5 (2010), p. 785-794por
dc.identifier.doi10.1111/j.1365-2141.2010.08166.x/
dc.identifier.eissn1365-2141
dc.identifier.issn0007-1048
dc.identifier.urihttp://hdl.handle.net/10400.14/4433
dc.identifier.wosWOS:000277791000016
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherWileypor
dc.subjectHereditary Spherocytosispor
dc.subjectErythrocyte membrane proteinspor
dc.subjectProtein defectspor
dc.subjectGlyceraldehyde-3-phosphate dehydrogenasepor
dc.subjectClinical severitypor
dc.titleErythrocyte membrane protein destabilization versus clinical outcome in 160 portuguese hereditary spherocytosis patientspor
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F22442%2F2005/PT
oaire.citation.endPage794
oaire.citation.issue5
oaire.citation.startPage785
oaire.citation.titleBritish Journal of Haematology
oaire.citation.volume149
oaire.fundingStreamSFRH
person.familyNameRocha
person.familyNameCosta
person.familyNameRocha-Pereira
person.familyNameQuintanilha
person.familyNameBelo
person.familyNameSantos-Silva
person.givenNameSusana
person.givenNameElisio
person.givenNamePetronila
person.givenNameAlexandre
person.givenNameLuís
person.givenNameAlice
person.identifier606269
person.identifier1368242
person.identifier.ciencia-idC312-96A1-2A63
person.identifier.ciencia-id6612-4AB7-363B
person.identifier.ciencia-id5210-C4D2-93CE
person.identifier.ciencia-id701F-C1C5-A63F
person.identifier.ciencia-idC319-EED1-E15D
person.identifier.ciencia-id3A11-3945-4DC4
person.identifier.orcid0000-0003-4196-2217
person.identifier.orcid0000-0003-1158-1480
person.identifier.orcid0000-0002-7985-1494
person.identifier.orcid0000-0001-8544-0061
person.identifier.orcid0000-0002-3941-6850
person.identifier.orcid0000-0002-2565-3169
person.identifier.ridK-4385-2013
person.identifier.ridK-1990-2013
person.identifier.ridK-3102-2013
person.identifier.ridL-5371-2013
person.identifier.ridK-5878-2013
person.identifier.ridK-2326-2013
person.identifier.scopus-author-id23467766400
person.identifier.scopus-author-id7402527214
person.identifier.scopus-author-id55891444400
person.identifier.scopus-author-id7003831097
person.identifier.scopus-author-id6602879850
person.identifier.scopus-author-id6603836490
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor
relation.isAuthorOfPublication1e8cef38-d08a-4698-adae-12c655894091
relation.isAuthorOfPublication48424466-ddc6-4188-8745-8e72e4bdd1f9
relation.isAuthorOfPublicationf06a1b55-d79a-49a1-a595-9869eb11ebd4
relation.isAuthorOfPublication5e406d72-1be3-4280-848f-f2c04e5c83d7
relation.isAuthorOfPublication3654b7b5-7ad2-4f2f-9114-93dc094f8e9e
relation.isAuthorOfPublication190165a4-a22a-47b8-a0bd-f6e7a93cba2d
relation.isAuthorOfPublication.latestForDiscovery5e406d72-1be3-4280-848f-f2c04e5c83d7
relation.isProjectOfPublication65000502-83d3-4410-8d5a-9d494f820a4c
relation.isProjectOfPublication.latestForDiscovery65000502-83d3-4410-8d5a-9d494f820a4c

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
2010_ICS_Costa_Elisio-dig2.PDF
Size:
513 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
3.44 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

FCSE - Contribuições em Revistas Científicas / Contribution to Journals