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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleThalassemia Intermedia As A Result Of Heterozygosis For Beta 0 -thalassemia And Alpha Alpha Alpha Anti-3,7 Genotype In A Brazilian Patient.pt_BR
dc.contributor.authorKimura, E Mpt_BR
dc.contributor.authorGrignoli, C R Ept_BR
dc.contributor.authorPinheiro, V R Ppt_BR
dc.contributor.authorCosta, F Fpt_BR
dc.contributor.authorSonati, M Fpt_BR
unicamp.authorE M Kimura, Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.pt_BR
unicamp.author.externalC R E Grignoli,pt
unicamp.author.externalV R P Pinheiro,pt
unicamp.author.externalF F Costa,pt
unicamp.author.externalM F Sonati,pt
dc.subjectAllelespt_BR
dc.subjectChildpt_BR
dc.subjectGenotypept_BR
dc.subjectGlobinspt_BR
dc.subjectHeterozygotept_BR
dc.subjectHumanspt_BR
dc.subjectMalept_BR
dc.subjectMutationpt_BR
dc.subjectPolymerase Chain Reactionpt_BR
dc.subjectSeverity Of Illness Indexpt_BR
dc.subjectThalassemiapt_BR
dc.subjectBeta-thalassemiapt_BR
dc.description.abstractWe report a case in which the interaction of heterozygosis for both the 0-IVS-II-1 (G->A) mutation and the alpha alpha alpha anti-3,7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the -thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (alpha alpha alpha / alpha alpha). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and genotypes as his son, while the mother, not related to the father and hematologically normal, was also a carrier of the alpha alpha alpha anti-3,7 allele. The present case emphasizes the need for considering the possibility of alpha-gene triplication in -thalassemia heterozygotes who display an unexpected severe phenotype. The -thalassemia mutation found here is being described for the first time in Brazil.en
dc.relation.ispartofBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]pt_BR
dc.relation.ispartofabbreviationBraz. J. Med. Biol. Res.pt_BR
dc.date.issued2003-Junpt_BR
dc.identifier.citationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 36, n. 6, p. 699-701, 2003-Jun.pt_BR
dc.language.isoengpt_BR
dc.description.volume36pt_BR
dc.description.firstpage699-701pt_BR
dc.rightsabertopt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0100-879Xpt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/12792697pt_BR
dc.date.available2015-11-27T12:52:11Z-
dc.date.accessioned2015-11-27T12:52:11Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:52:11Z (GMT). No. of bitstreams: 1 pmed_12792697.pdf: 581501 bytes, checksum: fde7766e2bfee642b14c3424ca343a13 (MD5) Previous issue date: 2003en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195409-
dc.identifier.idPubmed12792697pt_BR
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