| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
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
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| Autores: |
Kimura,Elza M.
Oliveira,Denise M.
Fertrin,Kleber
Pinheiro,Valéria R.
Jorge,Susan E.D.C.
Costa,Fernando F.
Sonati,Maria de Fátima
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| Data: |
2009-01-01
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| Ano: |
2009
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| Palavras-chave: |
Hereditary hemoglobinopathies
Alpha-thalassemia
Hb H disease
Hb Icaria
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| Resumo: |
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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572009005000071
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.32 n.4 2009
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| Direitos: |
info:eu-repo/semantics/openAccess
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