Causes and pathophysiology of acquired sideroblastic anemia

Rodríguez-Sevilla, Juan José; Calvo, Xavier; Arenillas Rocha, Leonor

doi:http://dx.doi.org/10.3390/genes13091562

Causes and pathophysiology of acquired sideroblastic anemia

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Rodriguez-Sevilla JJ, Calvo X, Arenillas L. Causes and pathophysiology of acquired sideroblastic anemia. Genes (Basel). 2022 Aug 30; 13(9): 1562. DOI: 10.3390/genes13091562

Abstract

The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow. Ring sideroblasts are abnormal erythroblasts with iron-loaded mitochondria that are visualized by Prussian blue staining as a perinuclear ring of green-blue granules. The mechanisms that lead to the ring sideroblast formation are heterogeneous, but in all of them, there is an abnormal deposition of iron in the mitochondria of erythroblasts. Congenital sideroblastic anemias include nonsyndromic and syndromic disorders. Acquired sideroblastic anemias include conditions that range from clonal disorders (myeloid neoplasms as myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms with ring sideroblasts) to toxic or metabolic reversible sideroblastic anemia. In the last 30 years, due to the advances in genomic techniques, a deep knowledge of the pathophysiological mechanisms has been accomplished and the bases for possible targeted treatments have been established. The distinction between the different forms of sideroblastic anemia is based on the study of the characteristics of the anemia, age of diagnosis, clinical manifestations, and the performance of laboratory analysis involving genetic testing in many cases. This review focuses on the differential diagnosis of acquired disorders associated with ring sideroblasts.