Albertine Donker

TABLE OF CONTENTS Chapter 1 General Introduction and Outline of Thesis 9 PART I: LITERATURE AND CLINICAL STUDIES Chapter 2 The Critical Roles of Iron during the Journey from Fetus to Adult: a Narrative Review 49 Chapter 3 Practice Guidelines for the Diagnosis and Management of Microcytic Anemias due to Genetic Disorders of Iron Metabolism or Heme Synthesis 91 Chapter 4 Iron Refractory Iron Deficiency Anemia: a Heterogeneous Disease that is not always Iron Refractory 139 Chapter 5 Microcytic Anemia with Low Transferrin Saturation, Increased Serum Hepcidin and Non-synonymous TMPRSS6 Variants: not always Iron Refractory Iron Deficiency Anemia 197 Chapter 6 X-linked Sideroblastic Anemia due to ALAS2 Mutations in the Netherlands: a Disease in Disguise 203