Microcytic Anemia With Liver Iron Overload

A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.

Etiology

This syndrome is due to mutations in DMT1 which codes for a transporter mediating the uptake of iron from the intestinal lumen in cytosol of duodenal enterocytes.

Management and treatment

Anemia poorly responds to oral iron treatment.