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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...

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Detalles Bibliográficos
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
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2009
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