We 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.

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.

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.

European Journal of HaematologyVolume 64, Issue 2 p. 137-138 Letter to the Editor β0-Thalassemia resulting from a novel mutation: β66/u→stop codon C.R.E. Grignoli, C.R.E. Grignoli Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorM.H. Carvalho, M.H. Carvalho Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorE.M. Kimura, E.M. Kimura Departamento de Patologia Clínica, Faculdade de Ciências Médicas, UNICAMPSearch for more papers by this authorM.F. Sonati, M.F. Sonati Departamento de Patologia Clínica, Faculdade de Ciências Médicas, UNICAMPSearch for more papers by this authorV.R. Arruda, V.R. Arruda Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorS.T.O. Saad, S.T.O. Saad Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorF.F. Costa, F.F. Costa Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this author C.R.E. Grignoli, C.R.E. Grignoli Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorM.H. Carvalho, M.H. Carvalho Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorE.M. Kimura, E.M. Kimura Departamento de Patologia Clínica, Faculdade de Ciências Médicas, UNICAMPSearch for more papers by this authorM.F. Sonati, M.F. Sonati Departamento de Patologia Clínica, Faculdade de Ciências Médicas, UNICAMPSearch for more papers by this authorV.R. Arruda, V.R. Arruda Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorS.T.O. Saad, S.T.O. Saad Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this authorF.F. Costa, F.F. Costa Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brasil andSearch for more papers by this author First published: 25 December 2001 https://doi.org/10.1034/j.1600-0609.2000.9l060.xCitations: 5 F.F.Costa, Departamento de Clínica Médica, Faculdade de Ciências Médicas – UNICAMP, CP 6111 – CEP 13083–970, BrazilTel: +(55–19) 788–7866Fax: +(55–19) 239–3114.e-mail: HYPERLINK mailto: [email protected] AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume64, Issue2February 2000Pages 137-138 RelatedInformation