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
Artigo
em Inglês
| LILACS
| ID: lil-531797
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:
DisponíveL
Índice:
LILACS (Américas)
Tipo de estudo:
Fatores de risco
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2009
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Brasil
Instituição/País de afiliação:
Centro Infantil Dr. Domingos A. Boldrini/BR
/
Universidade Estadual de Campinas/BR
Similares
MEDLINE
...
LILACS
LIS