The disease usually presents in young males. They present with hepatosplenomegaly, liver disease and increased skin pigmentation, all due to the excessive deposit of iron in the liver, spleen and skin. An autosomal recessive form, occurring in both males and females of affected families, has been described. The anemia is moderate to severe and dimorphic with marked anisocytosis and poikilocytosis. Basophilic stippling is marked and target cells are common.
Pappenheimer bodies are present.
The MCV, MCH and MCHC are decreased. The RDW is increased with the RBC histogram shifted to the left. Leukocytes and platelets are normal. Bone marrow shows erythroid hyperplasia with a maturation arrest. The TIBC is normal to decreased.