Thalassemia intermedia as a result of heterozygosis for beta(0)-thalassemia and alpha alpha alpha(anti-3.7)/alpha alpha genotype in a Brazilian patient

dc.creatorKimura, EM
dc.creatorGrignoli, CRE
dc.creatorPinheiro, VRP
dc.creatorCosta, FF
dc.creatorSonati, MF
dc.date2003
dc.dateJUN
dc.date2014-11-15T08:24:18Z
dc.date2015-11-26T16:09:56Z
dc.date2014-11-15T08:24:18Z
dc.date2015-11-26T16:09:56Z
dc.date.accessioned2018-03-28T22:58:32Z
dc.date.available2018-03-28T22:58:32Z
dc.identifierBrazilian Journal Of Medical And Biological Research. Assoc Bras Divulg Cientifica, v. 36, n. 6, n. 699, n. 701, 2003.
dc.identifier0100-879X
dc.identifierWOS:000183866400003
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/78666
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/78666
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/78666
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1266744
dc.descriptionWe report a case in which the interaction of heterozygosis for both the beta(0)-IVS-II-1 (G-->A) mutation and the alphaalphaalpha(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 beta-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (alphaalphaalpha/alphaalpha). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and beta genotypes as his son, while the mother, not related to the father and hematologically normal, was also a carrier of the alphaalphaalpha(anti-3.7) allele. The present case emphasizes the need for considering the possibility of alpha-gene triplication in beta-thalassemia heterozygotes who display an unexpected severe phenotype. The beta-thalassemia mutation found here is being described for the first time in Brazil.
dc.description36
dc.description6
dc.description699
dc.description701
dc.languageen
dc.publisherAssoc Bras Divulg Cientifica
dc.publisherSao Paulo
dc.publisherBrasil
dc.relationBrazilian Journal Of Medical And Biological Research
dc.relationBrazilian J. Med. Biol. Res.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectbeta-thalassemia
dc.subjectthalassemia intermedia
dc.subjecttriplicated alpha-globin genes
dc.subjecthemoglobinopathies
dc.subjectGlobin Gene Triplication
dc.subjectBeta-thalassemia
dc.subjectPhenotype
dc.subjectFamily
dc.subjectLocus
dc.titleThalassemia intermedia as a result of heterozygosis for beta(0)-thalassemia and alpha alpha alpha(anti-3.7)/alpha alpha genotype in a Brazilian patient
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución