Please use this identifier to cite or link to this item:
|Type:||Artigo de periódico|
|Title:||Hb H Disease Resulting From The Association Of An α0- Thalassemia Allele [-(α)20.5] With An Unstable α-globin Variant [hb Icaria]: First Report On The Occurrence In Brazil|
|Abstract:||Hb H Disease is caused by the loss or inactivation of three of the four functional α-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 α0 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%, respectively). This is the first description of this infrequent association in the Brazilian population. Copyright © 2009, Sociedade Brasileira de Genética.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.