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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
Author: Kimura E.M.
Oliveira D.M.
Fertrin K.
Pinheiro V.R.
Jorge S.E.D.C.
Costa F.F.
Sonati M.D.F.
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.
Rights: aberto
Identifier DOI: 10.1590/S1415-47572009005000071
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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