The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance |
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| Authors: | Simon Grootendorst Jonathan de Wilde Birgit van Dooijeweert Annelies van Vuren Wouter van Solinge Roger Schutgens Richard van Wijk Marije Bartels |
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| Affiliation: | 1.Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands; (S.G.); (J.d.W.); (B.v.D.); (W.v.S.); (R.v.W.);2.Van Creveldkliniek, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands; (A.v.V.); (R.S.) |
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| Abstract: | Rare hereditary anemias (RHA) represent a group of disorders characterized by either impaired production of erythrocytes or decreased survival (i.e., hemolysis). In RHA, the regulation of iron metabolism and erythropoiesis is often disturbed, leading to iron overload or worsening of chronic anemia due to unavailability of iron for erythropoiesis. Whereas iron overload generally is a well-recognized complication in patients requiring regular blood transfusions, it is also a significant problem in a large proportion of patients with RHA that are not transfusion dependent. This indicates that RHA share disease-specific defects in erythroid development that are linked to intrinsic defects in iron metabolism. In this review, we discuss the key regulators involved in the interplay between iron and erythropoiesis and their importance in the spectrum of RHA. |
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| Keywords: | erythropoiesis iron metabolism iron overload ineffective erythropoiesis |
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