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Mutations of spliceosome genes were shown to occur frequently in different entities.[1][1] Remarkably, mutations in SF3B1 (splicing factor 3b, subunit 1) were associated with the morphological feature of ring sideroblasts[1][1]-[3][2] and were also found in refractory anemia with ring sideroblasts

haematologica

High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms