Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2.
A patient with multiorgan involvement of non-iatrogenic hemochromatosis secondary to congenital dyserythropoietic anemia (CDA) type 2 is described. The clinical manifestations of hemochromatosis preceded the diagnosis of CDA. CDA should be included among the hematological disorders associated with iron overload. Iron therapy and blood transfusions should be avoided if possible in patients with CDA, and all such patients should be carefully screened for the known complications of iron overload.
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications*; D000745:Anemia, Hemolytic, Congenital / Q000150:complications*; D009202:Cardiomyopathies / Q000209:etiology; D005260:Female; D006432:Hemochromatosis / Q000209:etiology*; D006801:Humans; D007006:Hypogonadism / Q000209:etiology