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Type: Artigo de periódico
Title: Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa 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 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.
Subject: ß-Thalassemia
Thalassemia intermedia
Triplicated alpha-globin genes
Editor: Associação Brasileira de Divulgação Científica
Rights: aberto
Identifier DOI: 10.1590/S0100-879X2003000600003
Date Issue: 1-Jun-2003
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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