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| Kimura,Elza M.; Oliveira,Denise M.; Fertrin,Kleber; Pinheiro,Valéria R.; Jorge,Susan E.D.C.; Costa,Fernando F.; Sonati,Maria de Fátima. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hereditary hemoglobinopathies; Alpha-thalassemia; Hb H disease; Hb Icaria. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007 |
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