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Hb H disease resulting from the association of an α(0)-thalassemia allele [-(α)(20.5)] with an unstable α-globin variant [Hb Icaria]: First report on the occurrence in Brazil
Hb H Disease is caused by the loss or inactivation of three of the four functional α-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 desc...
Autores principales: | Kimura, Elza M., Oliveira, Denise M., Fertrin, Kleber, Pinheiro, Valéria R., Jorge, Susan E. D. C., Costa, Fernando F., de Fátima Sonati, Maria |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036908/ https://www.ncbi.nlm.nih.gov/pubmed/21637442 http://dx.doi.org/10.1590/S1415-47572009005000071 |
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