Thalassemia Intermedia As A Result Of Heterozygosis For Beta 0 -thalassemia And Alpha Alpha Alpha Anti-3,7 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-Jun
dc.date2015-11-27T12:52:11Z
dc.date2015-11-27T12:52:11Z
dc.date.accessioned2018-03-29T00:57:32Z
dc.date.available2018-03-29T00:57:32Z
dc.identifierBrazilian 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.
dc.identifier0100-879X
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/12792697
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195409
dc.identifier12792697
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1295642
dc.descriptionWe 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.
dc.description36
dc.description699-701
dc.languageeng
dc.relationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]
dc.relationBraz. J. Med. Biol. Res.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectAlleles
dc.subjectChild
dc.subjectGenotype
dc.subjectGlobins
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectMale
dc.subjectMutation
dc.subjectPolymerase Chain Reaction
dc.subjectSeverity Of Illness Index
dc.subjectThalassemia
dc.subjectBeta-thalassemia
dc.titleThalassemia Intermedia As A Result Of Heterozygosis For Beta 0 -thalassemia And Alpha Alpha Alpha Anti-3,7 Genotype In A Brazilian Patient.
dc.typeArtículos de revistas


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