Albertine Donker

General Introduction 35 1 Lack of evidence based clinical guidelines for genetic disorders of iron metabolism or heme synthesis hamper timely diagnosis and adequate treatment of these disorders Discriminating the rare genetic disorders of iron metabolism or heme synthesis from the highly prevalent microcytic anemias due to acquired ID is a diagnostic challenge for physicians. Timely diagnosis of these diseases is paramount in order to avoid an unnecessarily long diagnostic process or a wrong diagnosis with subsequently a not effective or even harmful treatment. Moreover, in some genetic anemias, such as the sideroblastic anemias, IO is of greater consequence than the anemia itself since unrecognized tissue iron loading might lead to severe morbidity and even mortality. 8,10 Until now, unawareness among clinicians of theses anemias and lack of evidence- based guidelines delay the diagnostic and therapeutic process of these diseases. Literature largely consists of anecdotal data and narrative reviews. Studies on genotype-phenotype correlation are mostly not available. For the diagnosis of IRIDA, serum hepcidin levels are indispensable since the cornerstone of the diagnosis involves an inappropriately increased serum hepcidin level in relation to body iron status. However, harmonized or standardized reference values of hepcidin for children are not available until now, hampering the diagnosis of IRIDA in children.