The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance

International Journal of Molecular Sciences

Simon Grootendorst¹  Birgit van Dooijeweert¹  Wouter van Solinge¹  Jonathan de Wilde¹  Richard van Wijk¹  Annelies van Vuren²  Marije Bartels²  Roger Schutgens² 

[1] Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands;Van Creveldkliniek, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands;

关键词: erythropoiesis;    iron metabolism;    iron overload;    ineffective erythropoiesis;   

DOI  :  10.3390/ijms22042204

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown