Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias.
The relationship between body iron status, degree of anaemia, erythroid expansion, age and sex has been studied in eight patients with congenital dyserythropoietic anaemia (CDA) and two patients with congenital sideroblastic anaemia, who had received no or very few blood transfusions and no medicinal iron during the course of their illness. All patients had increased iron stores. Iron load was mild in three women in the reproductive age and severe in two men, in middle age, who had evidence of parenchymal organ dysfunction. Iron loading, as judged by the plasma ferritin concentration, was independent of the degree of anaemia while it was closely related to the patient's age and the degree of increase in the total erythropoietic activity. It is concluded that patients with CDA or congenital sideroblastic anaemia are at high risk of developing haemochromatosis in middle age. Prophylactic phlebotomy or iron chelation therapy should be considered for such patients.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000742:Anemia, Dyserythropoietic, Congenital / Q000378:metabolism*; D000745:Anemia, Hemolytic, Congenital / Q000378:metabolism*; D000756:Anemia, Sideroblastic / Q000151:congenital* / Q000378:metabolism; D002648:Child; D005260:Female; D005293:Ferritins / Q000097:blood; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D012737:Sex Factors
D005293:Ferritins; D007501:Iron