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  • Title: Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible?
    Author: Barron R, Grace ND, Sherwood G, Powell LW.
    Journal: Gastroenterology; 1989 Apr; 96(4):1204-6. PubMed ID: 2925065.
    Abstract:
    Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14. A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis.
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