Understanding complex disease-related mechanisms: Rational therapies for Diamond-Blackfan anaemia.

ABSTRACT

The rich history surrounding Diamond-Blackfan anaemia (DBA), originally described in 1938 as congenital hypoplastic anaemia2 reflects the evolution of paediatric haematology. In their paper, the authors1 present the results of a clinical trial using the thrombopoietin-mimetic agent eltrombopag to treat red cell failure in DBA. A low response rate belies the importance of this work. Commentary on Duncan et al. Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag. Br J Haematol 2024;2042077-2085.