Albertine Donker

Chapter 1 12 This thesis aims to provide information on several clinical aspects of microcytic anemias due to a genetic disorder of iron metabolism or heme synthesis in order to increase awareness among clinicians for these rare disorders and to facilitate them to establish the right diagnosis and start an appropriate treatment. To achieve these objectives, we studied clinical, genetic and diagnostic aspects of these anemias, with the emphasis on Iron Refractory Iron Deficiency Anemia (IRIDA) due to TMPRSS6 defects and X-linked Sideroblastic Anemia (XLSA) due to ALAS2 defects.