Article
A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.
Annals of hematology - 1 Sept 2005
Ropero Paloma, Villegas Ana, Martínez Miguel, Ataulfo González Fernández Fernando, Benavente Celina, Mateo Marta
Abstract excerpt
Dominant inherited beta-thalassemias describe those beta-thalassemia variants that result in a thalassemia intermediate phenotype in individuals who have inherited only a single copy of the abnormal beta gene. This form of thalassemia is characterized by moderately severe anemia with jaundice and splenomegaly; it is also characterized by the presence of inclusion bodies in the red blood cell precursors and has,...
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