Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up

For thirty years we have followed two siblings with apparent iron deficiency anemia in the setting of systemic iron overload. This report details their clinical courses, which have been surprisingly disparate. The female sibling has been more severely affected, requiring multiple transfusions. In contrast, the male sibling demonstrated apparent improvement at puberty. Although both have shown evidence of systemic iron overload for many years, neither has had significant end organ toxicity. We discuss the probable pathophysiology of their disorder, drawing from animal models with similar defects in iron uptake and utilization.