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Type: Artigo de periódico
Title: Hb H disease resulting from the association of an alpha(0)-thalassemia allele [-(alpha)(20.5)] with an unstable alpha-globin variant [Hb Icaria]: First report on the occurrence in Brazil
Author: Kimura, EM
Oliveira, DM
Fertrin, K
Pinheiro, VR
Jorge, SEDC
Costa, FF
Sonati, MD
Abstract: Hb H Disease is caused by the loss or inactivation of three of the four functional alpha-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 (alpha-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common alpha(0) deletion [-(alpha)(20.5)] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable alpha-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
Country: Brasil
Editor: Soc Brasil Genetica
Citation: Genetics And Molecular Biology. Soc Brasil Genetica, v. 32, n. 4, n. 712, n. 715, 2009.
Rights: aberto
Identifier DOI: 10.1590/S1415-47572009005000071
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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