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

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Autor(es):
E.M. Kimura ; C.R.E. Grignoli ; V.R.P. Pinheiro ; F.F. Costa ; M.F. Sonati
Número total de Autores: 5
Tipo de documento: Artigo Científico
Fonte: Brazilian Journal of Medical and Biological Research; v. 36, n. 6, p. 699-701, Jun. 2003.
Resumo

We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G->A) mutation and the <FONT FACE=Symbol>aaa</FONT>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 ß-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (<FONT FACE=Symbol>aaa</FONT>/<FONT FACE=Symbol>aa</FONT>). 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 <FONT FACE=Symbol>aaa</FONT>anti-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. (AU)

Processo FAPESP: 97/11725-1 - Genética molecular das alterações hereditárias da hemoglobina e estudo funcional dos genes globina gama
Beneficiário:Fernando Ferreira Costa
Linha de fomento: Auxílio à Pesquisa - Temático