Figure 3.

Potential therapeutic effect in DBA and 5q-MDS. In DBA and 5q-MDS, mutations in ribosomal proteins cause impaired ribosome synthesis, leading to the reduction of translation of globin mRNA. Since heme molecules need to be stoichiometrically matched with globin proteins to produce Hb, this leads to the accumulation of free heme within the erythroid progenitor and precursor cells. This contributes to the DBA and 5q-MDS pathology. A1M has been shown to reduce intracellular ROS and heme-associated toxicity and it could therefore be speculated that A1M is a potential therapeutic agent in DBA and 5q-MDS.