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thalassemia major

 

Definition: the syndrome of severe anemia resulting from the homozygous state of one of the thalassemia genes or one of the hemoglobin Lepore genes with onset, in infancy or childhood, of pallor, icterus, weakness, splenomegaly, cardiac enlargement, thinning of inner and outer tables of skull, microcytic hypochromic anemia with poikilocytosis, anisocytosis, stippled cells, target cells, and nucleated erythrocytes; types of hemoglobin are variable and depend on the gene involved.

Synonym(s): Cooley anemia

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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