Consulta: creatorFacets:"Jorge,Susan E.D.C."
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Data/hora: 09/06/2024 15:58:45

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
Provedor de dados: Genetics and Molecular Biology
Autores: Kimura,Elza M.; Oliveira,Denise M.; Fertrin,Kleber; Pinheiro,Valéria R.; Jorge,Susan E.D.C.; Costa,Fernando F.; Sonati,Maria de Fátima.
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...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Hereditary hemoglobinopathies; Alpha-thalassemia; Hb H disease; Hb Icaria.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007