What is the underlying pathophysiology of anemia in Diamond-Blackfan syndrome?

Diamond-Blackfan syndrome (DBS) is primarily characterized by a selective failure of erythroid progenitor cells in the bone marrow to properly mature and produce red blood cells, leading to anemia. The underlying pathophysiology involves an intrinsic defect in these progenitor cells, which are supposed to differentiate into erythrocytes. This defect is often due to mutations in genes that are crucial for ribosome biogenesis. As a result, individuals with this condition have a reduced number of red blood cells and often exhibit macrocytic anemia due to the impaired production.

In contrast, conditions such as increased hemolysis, iron deficiency, or chronic infection do not explain the specific maturation failure of erythroid progenitor cells seen in Diamond-Blackfan syndrome, highlighting why the correct answer reflects the intrinsic cellular defect specific to this disorder. Understanding the unique developmental aspect of Diamond-Blackfan syndrome helps distinguish it from other forms of anemia, which may stem from different pathophysiological mechanisms.