Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient

dc.creatorKimura, E.M.
dc.creatorGrignoli, C.R.E.
dc.creatorPinheiro, V.R.P.
dc.creatorCosta, F.F.
dc.creatorSonati, M.F.
dc.date2003-06-01
dc.date2014-07-17T15:05:03Z
dc.date2015-11-26T11:25:30Z
dc.date2014-07-17T15:05:03Z
dc.date2015-11-26T11:25:30Z
dc.date.accessioned2018-03-28T20:39:28Z
dc.date.available2018-03-28T20:39:28Z
dc.identifierBrazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 36, n. 6, p. 699-701, 2003.
dc.identifier0100-879X
dc.identifierS0100-879X2003000600003
dc.identifier10.1590/S0100-879X2003000600003
dc.identifierhttp://dx.doi.org/10.1590/S0100-879X2003000600003
dc.identifierhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600003
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/24210
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/24210
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1233359
dc.descriptionWe report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G->A) mutation and the aaaanti-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 ß-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (aaa/aa). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and ß genotypes as his son, while the mother, not related to the father and hematologically normal, was also a carrier of the aaaanti-3.7 allele. The present case emphasizes the need for considering the possibility of alpha-gene triplication in ß-thalassemia heterozygotes who display an unexpected severe phenotype. The ß-thalassemia mutation found here is being described for the first time in Brazil.
dc.description699
dc.description701
dc.languageen
dc.publisherAssociação Brasileira de Divulgação Científica
dc.relationBrazilian Journal of Medical and Biological Research
dc.rightsaberto
dc.sourceSciELO
dc.subjectß-Thalassemia
dc.subjectThalassemia intermedia
dc.subjectTriplicated alpha-globin genes
dc.subjectHemoglobinopathies
dc.titleThalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient
dc.typeArtículos de revistas


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