Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia

Abstract

Diamond-Blackfan anaemia (DBA) is a rare congenital red cell aplasia that presents in infancy. The exact molecular mechanism of ineffective erythropoiesis and red cell aplasia remains unclear, rendering targeted therapy elusive. The mainstay treatment of DBA is with regular blood transfusion and long-term corticosteroids, both of which have long-term side effects. We report a case of DBA successfully treated with danazol, a synthetic androgen, and suggest that danazol be considered as a viable option in patients who become refractory to steroids and are considered high risk or unfit for allogeneic stem cell transplantation.