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Type: Artigo de periódico
Title: 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
Author: Kimura, Elza M.
Oliveira, Denise M.
Fertrin, Kleber
Pinheiro, Valéria R.
Jorge, Susan E.D.C.
Costa, Fernando F.
Sonati, Maria de Fátima
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%, respectively). This is the first description of this infrequent association in the Brazilian population.
Subject: hereditary hemoglobinopathies
Hb H disease
Hb Icaria
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572009005000071
Date Issue: 1-Jan-2009
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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