title: Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis.
abstract: During recent years, our understanding of the pathogenesis of inherited microcytic 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 into daily clinical practice will reduce delays in establishing a proper diagnosis, invasive and/or costly diagnostic tests, and unnecessary or even detrimental treatments. To assist the clinician, we developed evidence-based multidisciplinary guidelines 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 these guidelines are relevant for pediatricians as well as clinicians who treat adults. This article summarizes these clinical practice guidelines and includes background on pathogenesis, conclusions, and recommendations and a diagnostic flowchart to facilitate using these guidelines in the clinical setting.
authors.affiliation: Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands;
authors.forename: Albertine E
authors.initials: AE
authors.lastname: Donker
authors.affiliation: Department of Hematology, University Medical Center Utrecht, Utrecht, The Netherlands;
authors.forename: Reinier A P
authors.initials: RA
authors.lastname: Raymakers
authors.affiliation: Department of Internal Medicine, Bronovo Hospital, The Hague, The Netherlands;
authors.forename: L Thom
authors.initials: LT
authors.lastname: Vlasveld
authors.affiliation: Netherlands Association of Medical Specialists, Utrecht, The Netherlands;
authors.forename: Teus
authors.initials: T
authors.lastname: van Barneveld
authors.affiliation: Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands;
authors.forename: Rieneke
authors.initials: R
authors.lastname: Terink
authors.affiliation: Department of Pediatrics, Catharina Hospital, Eindhoven, The Netherlands;
authors.forename: Natasja
authors.initials: N
authors.lastname: Dors
authors.affiliation: Department of Pediatric Hemato-Oncology, Radboud University Medical Center, Nijmegen, The Netherlands; and.
authors.forename: Paul P T
authors.initials: PP
authors.lastname: Brons
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Nine V A M
authors.initials: NV
authors.lastname: Knoers
authors.affiliation: Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands;
authors.forename: Dorine W
authors.initials: DW
authors.lastname: Swinkels
mesh_terms: D000747:Anemia, Hypochromic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D018798:Anemia, Iron-Deficiency / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000756:Anemia, Sideroblastic / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D019317:Evidence-Based Medicine; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006418:Heme / Q000096:biosynthesis*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D009154:Mutation; D017410:Practice Guidelines as Topic
chemical_list: D006418:Heme; D007501:Iron