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Barron, R. et al.

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

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.[1]

References

Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible? Barron, R., Grace, N.D., Sherwood, G., Powell, L.W. Gastroenterology (1989) [Pubmed]

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