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dc.contributor.authorSilva, Maria Aparecida Lima dapt_BR
dc.contributor.authorFriedrisch, Joao Ricardopt_BR
dc.contributor.authorBittar, Christina Matzenbacherpt_BR
dc.contributor.authorUrnau, Meide Danielept_BR
dc.contributor.authorMerzoni, Jóicept_BR
dc.contributor.authorValim, Vanessa de Souzapt_BR
dc.contributor.authorAmorin, Brunapt_BR
dc.contributor.authorPezzi, Annelisept_BR
dc.contributor.authorChies, Jose Artur Bogopt_BR
dc.contributor.authorSilla, Lucia Mariano da Rochapt_BR
dc.date.accessioned2020-11-06T04:10:51Zpt_BR
dc.date.issued2014pt_BR
dc.identifier.issn2164-3199pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/214730pt_BR
dc.description.abstractHematopoietic stem cell transplantation (HSCT) has emerged as a curative strategy for sickle cell anemia (SCA); it is necessary to find markers of SCA clinical severity to spare those SCA patients whose clinical course is mild from the morbidity and mortality associated with HSCT. Haplotypes have been correlated with the severity of clinical manifestations in SCA patients, and fetal hemoglobin (HbF) and socioeconomic status (SeS) have also been described as negative factors. We studied these factors and their impact on clinical manifestations in a population of Southern Brazilian patients attending the Center for Sickle Cell Anemia at Hospital de Clínicas de Porto Alegre/RS, Brazil. Clinical severity was defined as two or more veno-occlusive episodes per year. The βS haplotypes were determined by PCR in 75 SCA patients. Among the 150 βS chromosomes analyzed, 99 (66%) were identified as Bantu (Ban), 41 (27%) as Benin (Ben), and 10 (7%) as other haplotypes. Most patients in our sample (62.7%) belonged to lower SeS groups, precluding meaningful statistical analysis of SeS impact on clinical severity. There was no correlation between haplotypes or HbF level and SCA clinical severity. Gene polymorphisms and environmental issues have to be taken into consideration.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofOpen journal of blood diseases. United States. Vol. 42 no. 2 (Jun. 2014), p. 16-23pt_BR
dc.rightsOpen Accessen
dc.subjectAnemiapt_BR
dc.subjectBeta-globulinaspt_BR
dc.subjectBrasil, Região Sulpt_BR
dc.titleß-globin gene cluster haplotypes and clinical severity in sickle cell anemia patients in southern Brazilpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000972934pt_BR
dc.type.originEstrangeiropt_BR


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