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congenital dyserythropoietic anemia


Definition: a group of anemias characterized by ineffective erythropoiesis, bone marrow erythroblastic multinuclearity, and secondary hemochromatosis. Three types are described: type I [MIM224120], macrocytic, megaloblastic anemia with erythroblastic internuclear chromatin bridges; type II, [MIM*224100], normoblastic anemia with multinucleated erythroblasts; type III, macrocytic anemia with erythroblastic multinuclearity and gigantoblasts [MIM*105600]. Both types I and II are autosomal recessively inherited, type III is of autosomal dominant inheritance.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.