Data/hora: 09/06/2024 18:01:35

Provedor de dados: | 56
País: | Brazil
Título: | Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient
Autores: | Kimura,E.M.; Grignoli,C.R.E.; Pinheiro,V.R.P.; Costa,F.F.; Sonati,M.F.
Data: | 2003-06-01
Ano: | 2003
Palavras-chave: | SS-Thalassemia; Thalassemia intermedia; Triplicated alpha-globin genes; Hemoglobinopathies.
Resumo: | We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G-&gt;A) mutation and the &lt;FONT FACE=Symbol&gt;aaa&lt;/FONT&gt;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 (&lt;FONT FACE=Symbol&gt;aaa&lt;/FONT&gt;/&lt;FONT FACE=Symbol&gt;aa&lt;/FONT&gt;). 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 &lt;FONT FACE=Symbol&gt;aaa&lt;/FONT&gt;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.
Tipo: | Info:eu-repo/semantics/other
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600003
Editor: | Associação Brasileira de Divulgação Científica
Relação: | 10.1590/S0100-879X2003000600003
Formato: | text/html
Fonte: | Brazilian Journal of Medical and Biological Research  v.36 n.6 2003
Fonte: | info:eu-repo/semantics/openAccess