Diamond Blackfan Anaemia

(redirected from Blackfan-Diamond Disease)
Congenital hypoplastic anaemia. An autosomal recessive [MIM 205900], occasionally consanguineous condition associated with pure red cell aplasia of early infancy onset with anaemia, pallor, failure to thrive; 30% of patients have minor physical abnormalities—e.g., short stature, thumb deformities, ocular changes
Management Transfusion, corticosteroids, bone marrow transplantation, growth factor therapy