Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195409
Type: Artigo de periódico
Title: Thalassemia Intermedia As A Result Of Heterozygosis For Beta 0 -thalassemia And Alpha Alpha Alpha Anti-3,7 Genotype In A Brazilian Patient.
Author: Kimura, E M
Grignoli, C R E
Pinheiro, V R P
Costa, F F
Sonati, M F
Abstract: We 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.
Subject: Alleles
Child
Genotype
Globins
Heterozygote
Humans
Male
Mutation
Polymerase Chain Reaction
Severity Of Illness Index
Thalassemia
Beta-thalassemia
Citation: Brazilian 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.
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/12792697
Date Issue: 2003
Appears in Collections:Unicamp - Artigos e Outros Documentos

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