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
Genet. mol. biol
; 32(4): 712-715, 2009. ilus, graf, tab
Article
em En
| LILACS
| ID: lil-531797
Biblioteca responsável:
BR1.1
ABSTRACT
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 > 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 percent, respectively). This is the first description of this infrequent association in the Brazilian population.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Tipo de estudo:
Risk_factors_studies
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Genet. mol. biol
Ano de publicação:
2009
Tipo de documento:
Article
/
Project document