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
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Risk factors
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2009
Type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
Centro Infantil Dr. Domingos A. Boldrini/BR
/
Universidade Estadual de Campinas/BR
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