Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias

Abstract

The relationship between body Fe status, degree of anemia, erythroid expansion, age and sex was studied in 8 patients with congenital dyserythropoietic anemia (CDA) and 2 patients with congenital sideroblastic anemia, who had received no or very few blood transfusions and no medicinal Fe during the course of their illness. All patients had increased Fe stores. Fe load was mild in 3 women in the reproductive age and severe in 2 men, in middle age, who had evidence of parenchymal, organ dysfunction. Fe loading, as judged by the plasma ferritin concentration, was independent of the degree of anemia while it was closely related to the patient''s age and the degree of increase in the total erythropoietic activity. Patients with CDA or congenital sideroblastic anemia are at high risk of developing hemochromatosis in middle age. Prophylactic phlebotomy or Fe chelation therapy should be considered for such patients.