Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible?

Gastroenterology. 1989 Apr;96(4):1204-6. doi: 10.1016/0016-5085(89)91642-9.

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Anemia, Sideroblastic / complications
  • Anemia, Sideroblastic / genetics*
  • Ferritins / blood
  • Hemochromatosis / complications
  • Hemochromatosis / genetics*
  • Humans
  • Iron / blood
  • Iron / metabolism*
  • Liver / metabolism
  • Liver / pathology
  • Male
  • Pedigree

Substances

  • Ferritins
  • Iron