A rare, progressive haematological disorder which presents in early childhood. It is a normocytic and normochromic aplastic or hypoplastic anaemia, resulting from defective erythropoiesis and lack of nucleated erythrocytes in the bone marrow. The defect of red cell production becomes apparent at 3-12 months of age. White cells and platelets are spared. Inheritance is usually autosomal recessive but autosomal dominant transmission has been reported.
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