Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis

摘要: During recent years, our understanding of the pathogenesis inherited microcytic anemias has gained from identification several genes and proteins involved in systemic cellular iron metabolism heme syntheses. Numerous case reports illustrate that implementation these novel molecular discoveries clinical practice increased presentation, diagnosis, management diseases. Integration insights into daily will reduce delays establishing a proper invasive and/or costly diagnostic tests, unnecessary or even detrimental treatments. To assist clinician, we developed evidence-based multidisciplinary guidelines on rare due to genetic disorders synthesis. These may present at all ages, therefore are relevant for pediatricians as well clinicians who treat adults. This article summarizes includes background pathogenesis, conclusions, recommendations flowchart facilitate using setting.