Main clinical features
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life long anemia splenomegaly, jaundice and secondary cirrhosis, hemochromatosis and normocytic binuclear or multinuclear erythroblast
erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus
may be associated to skeletal dysplasia, and to deterioration of the vision as a result of retinal angioid streaks and macular abnormalities (PMID: 18081704))
macrocytic anemia associated with ineffective erythropoiesis and the development of secondary hemochromatosis (PMID: 19336738)) |