Albertine Donker

Chapter 3 92 ABSTRACT During recent years our understanding of the pathogenesis of microcytic inherited anemias has gained from the identification of several genes and proteins involved in systemic and cellular iron metabolism and heme syntheses. Numerous case reports illustrate that the implementation of these novel molecular discoveries in clinical practice has increased our understanding of the presentation, diagnosis and management of these diseases. Integration of these insights in daily clinical practice will reduce delays in time to establish a proper diagnosis, invasive and/or costly diagnostic tests and unnecessary or even detrimental treatments. In order to assist the clinician, we developed an evidence-based multidisciplinary guideline on the management of rare microcytic anemias due to genetic disorders of iron metabolism and heme synthesis. These genetic disorders may present at all ages and therefore this guideline is relevant for pediatricians as well as clinicians treating adults. This article summarizes these clinical practice guidelines and includes i) background on pathogenesis, ii) conclusions and recommendations and iii) a diagnostic flow chart to facilitate its use in the clinical setting. Key words anemia, epidemiology, genetic disorder, heme, heme biosynthesis, iron, iron metabolism, iron overload, microcytic anemia, sideroblastic anemia