Description:

This session will focus on recent advances in our understanding of the pathophysiology of anemia in disorders characterized by impaired iron supply to the erythroid marrow (iron deficiency, inflammation) or by abnormal iron processing in immature erythroid cells (sideroblastic anemias). Innovative treatments that are being developed for these disorders will be illustrated.

Dr. Paula G. Fraenkel will discuss the anemia of inflammation or chronic disease, which is found in many conditions including the critically ill patient. Dr. Fraenkel will analyze the effects of inflammation and abnormal hepcidin production on iron homeostasis and erythropoiesis. She will then discuss the novel pharmacologic agents that decrease hepcidin expression and may be useful to prevent and treat the anemia of inflammation.

Dr. Clara Camaschella will first consider the epidemiology of iron deficiency and the genetic susceptibly to this condition. She will then review traditional and emerging causes of iron deficiency in clinics, current diagnostic approaches and the important issue of intravenous versus oral iron treatment.

Dr. Mario Cazzola will review the molecular pathophysiology and current treatments of sideroblastic anemias, a heterogeneous group of inherited and acquired disorders characterized by ring sideroblasts, ineffective erythropoiesis and parenchymal iron overload. He will examine the inherited sideroblastic anemias caused by germline mutations of ALAS2 or SLC25A38, and will then focus on refractory anemia with ring sideroblasts, a myelodysplastic syndrome associated with somatic mutation of the RNA splicing machinery, particularly SF3B1 mutation. Novel drugs capable of specifically targeting ineffective erythropoiesis and alleviating anemia in this condition will be discussed.