The formation of ring sideroblasts is often due to defects in the mitochondrial processing of iron. Normally, iron is incorporated into heme, but in certain conditions, this process is disrupted, leading to the accumulation of iron in the mitochondria. Genetic mutations, such as those affecting the ALAS2 gene involved in heme synthesis, can be responsible. Acquired factors, including certain drugs and toxins, can also lead to the formation of ring sideroblasts.
