Congenital Dyserythropoietic Anemia Type III (CDA III)

Chromosome: 15q22 (close to locus of CDA type Ia)

Gene: CDAN3

Inheritance: autosomal dominant

Clinical features:

(1) mild normocytic or macrocytic anemia present since birth

(2) hemolysis with mild jaundice and elevated serum LDH

(3) ineffective erythropoiesis

(4) variable splenomegaly

(5) rare iron overload

(6) angioid streaks and macular degeneration

(7) monoclonal gammopathy including myeloma

(8) variable weakness, fatigue or headache

(9) elevated serum thymidine kinase

Transfusion-dependence is uncommon.

A bone marrow biopsy shows active erythropoiesis with giant erythroblasts containing multiple nuclei per cell.