Norbert Gattermann1, Martina U Muckenthaler, Andreas E Kulozik, Georgia Metzgeroth, Jan Hastka. 1. Department of Haematology, Oncology and Clinical Immunology, Düsseldorf University Hospital; Department of Pediatric Oncology, Hematology, and Immunology, Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg University Hospital Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, Heidelberg, Translational Lung Research Center Heidelberg, German Center for Lung Research, Heidelberg, German Center for Cardiovascular Diseases, Partner Heidelberg; Department of Pediatric Oncology, Hematology, and Immunology, Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg University Hospital; III. Department of Hematology and Oncology, University Hospital Mannheim.
Abstract
BACKGROUND: In the western world, 10-15% of women of child-bearing age suffer from iron-deficiency anemia. Iron overload due to chronic treatment with blood transfusions or hereditary hemochromatosis is much rarer. METHODS: This review is based on pertinent publications retrieved by a selective search on the pathophysiology, clinical features, and diagnostic evaluation of iron deficiency and iron overload. RESULTS: The main causes of iron deficiency are malnutrition and blood loss. Its differential diagnosis includes iron-refractory iron deficiency anemia (IRIDA), a rare congenital disease in which the hepcidin level is pathologically elevated, as well as the more common anemia of chronic disease (anemia of chronic inflammation), in which increased amounts of hepcidin are formed under the influence of interleukin-6 and enteric iron uptake is blocked as a result. Iron overload comes about through long-term transfusion treatment or a congenital disturbance of iron metabolism (hemochromatosis). Its diagnostic evaluation is based on clinical and laboratory findings, imaging studies, and specific mutation analyses. CONCLUSION: Our improving understanding of the molecular pathophysiology of iron metabolism aids in the evaluation of iron deficiency and iron overload and may in future enable treatment not just with iron supplementation or iron chelation, but also with targeted pharmacological modulation of the hepcidin regulatory system.
BACKGROUND: In the western world, 10-15% of women of child-bearing age suffer from iron-deficiency anemia. Iron overload due to chronic treatment with blood transfusions or hereditary hemochromatosis is much rarer. METHODS: This review is based on pertinent publications retrieved by a selective search on the pathophysiology, clinical features, and diagnostic evaluation of iron deficiency and iron overload. RESULTS: The main causes of iron deficiency are malnutrition and blood loss. Its differential diagnosis includes iron-refractory iron deficiency anemia (IRIDA), a rare congenital disease in which the hepcidin level is pathologically elevated, as well as the more common anemia of chronic disease (anemia of chronic inflammation), in which increased amounts of hepcidin are formed under the influence of interleukin-6 and enteric iron uptake is blocked as a result. Iron overload comes about through long-term transfusion treatment or a congenital disturbance of iron metabolism (hemochromatosis). Its diagnostic evaluation is based on clinical and laboratory findings, imaging studies, and specific mutation analyses. CONCLUSION: Our improving understanding of the molecular pathophysiology of iron metabolism aids in the evaluation of iron deficiency and iron overload and may in future enable treatment not just with iron supplementation or iron chelation, but also with targeted pharmacological modulation of the hepcidin regulatory system.
Authors: C Borgna-Pignatti; M D Cappellini; P De Stefano; G C Del Vecchio; G L Forni; M R Gamberini; R Ghilardi; R Origa; A Piga; M A Romeo; H Zhao; A Cnaan Journal: Ann N Y Acad Sci Date: 2005 Impact factor: 5.691
Authors: João Arezes; Niall Foy; Kirsty McHugh; Anagha Sawant; Doris Quinkert; Virginie Terraube; Alette Brinth; May Tam; Edward R LaVallie; Stephen Taylor; Andrew E Armitage; Sant-Rayn Pasricha; Orla Cunningham; Matthew Lambert; Simon J Draper; Reema Jasuja; Hal Drakesmith Journal: Blood Date: 2018-08-10 Impact factor: 22.113
Authors: Heinz Ludwig; Rayko Evstatiev; Gabriela Kornek; Matti Aapro; Thomas Bauernhofer; Veronika Buxhofer-Ausch; Michael Fridrik; Dietmar Geissler; Klaus Geissler; Heinz Gisslinger; Elisabeth Koller; Gerhard Kopetzky; Alois Lang; Holger Rumpold; Michael Steurer; Houman Kamali; Hartmut Link Journal: Wien Klin Wochenschr Date: 2015-09-15 Impact factor: 1.704