) with an unstable -globin variant (Hb Icaria): First report on the occurrence in Brazil. Kimura, E. M., Oliveira, D. M., Fertrin, K. Y., Kleber Yotsumoto Fertrin, Pinheiro, V. R., Costa, F. F., Costa, F. F., de Fátima Sonati, M., de Fatima Sonati, M., & Boldrini, D. A. January, 2009. MAG ID: 2598161577abstract bibtex Hb H Disease is caused by the loss or inactivation of three of the four functional -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 (-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common 0 deletion (-() 20.5 ) with a rare point mutation (c.427T \textgreater A), thus resulting in an elongated and unstable -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.
@article{kimura__2009,
title = {) with an unstable -globin variant ({Hb} {Icaria}): {First} report on the occurrence in {Brazil}},
abstract = {Hb H Disease is caused by the loss or inactivation of three of the four functional -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 (-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common 0 deletion (-() 20.5 ) with a rare point mutation (c.427T {\textgreater} A), thus resulting in an elongated and unstable -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.},
author = {Kimura, Elza M. and Oliveira, Denise M. and Fertrin, Kleber Yotsumoto and {Kleber Yotsumoto Fertrin} and Pinheiro, Valéria R. and Costa, Fernando Ferreira and Costa, Fernando F. and de Fátima Sonati, Maria and de Fatima Sonati, Maria and Boldrini, Domingos A.},
month = jan,
year = {2009},
note = {MAG ID: 2598161577},
}
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