Data/hora: 02/06/2024 04:41:02

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