Sideroblastic Anemia With Myopathy Secondary To Novel, Pathogenic Missense Variants In The Yars2 Gene

Sideroblastic anemias (SA), both hereditary and acquired, are characterized by ring sideroblasts (RS), which are bone marrow erythroid precursors (erythroblasts) with iron loaded mitochondria visualized as a perinuclear ring by Perl’s stain. Acquired SA, myelodysplastic syndrome with RS (MDS-RS),