title: Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible?
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.
authors.affiliation: Department of Medicine, Faulkner Hospital, Boston, Massachusetts.
authors.forename: R
authors.initials: R
authors.lastname: Barron
authors.forename: N D
authors.initials: ND
authors.lastname: Grace
authors.forename: G
authors.initials: G
authors.lastname: Sherwood
authors.forename: L W
authors.initials: LW
authors.lastname: Powell
mesh_terms: D000368:Aged; D000756:Anemia, Sideroblastic / Q000150:complications / Q000235:genetics*; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood / Q000378:metabolism*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D010375:Pedigree
chemical_list: D005293:Ferritins; D007501:Iron