Data/hora: 09/06/2024 09:46:33

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil	
Autores: 	Kimura,Elza M.; Oliveira,Denise M.; Fertrin,Kleber; Pinheiro,Valéria R.; Jorge,Susan E.D.C.; Costa,Fernando F.; Sonati,Maria de Fátima.	
Data: 	2009-01-01	
Ano: 	2009	
Palavras-chave: 	Hereditary hemoglobinopathies; Alpha-thalassemia; Hb H disease; Hb Icaria.	
Resumo: 	Hb H Disease is caused by the loss or inactivation of three of the four functional a-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (α-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common αº deletion [-(α)20.5] with a rare point mutation (c.427T &gt; A), thus resulting in an elongated and unstable α-globin variant, Hb Icaria, (X142K), with 31 additional amino-acid residues. Very high levels of Hb H and Hb Bart's were detected in the patient's red blood cells (14.7 and 19.0%, respectively). This is the first description of this infrequent association in the Brazilian population.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572009005000071	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.32 n.4 2009	
Fonte: 	info:eu-repo/semantics/openAccess