Blood Journal
Leading the way in experimental and clinical research in hematology

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

  1. Albertine E. Donker1,
  2. Reinier A. P. Raymakers2,
  3. L. Thom Vlasveld3,
  4. Teus van Barneveld4,
  5. Rieneke Terink1,
  6. Natasja Dors5,
  7. Paul P. T. Brons6,
  8. Nine V. A. M. Knoers7, and
  9. Dorine W. Swinkels1
  1. 1Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands;
  2. 2Department of Hematology, University Medical Center Utrecht, Utrecht, The Netherlands;
  3. 3Department of Internal Medicine, Bronovo Hospital, The Hague, The Netherlands;
  4. 4Netherlands Association of Medical Specialists, Utrecht, The Netherlands;
  5. 5Department of Pediatrics, Catharina Hospital, Eindhoven, The Netherlands;
  6. 6Department of Pediatric Hemato-Oncology, Radboud University Medical Center, Nijmegen, The Netherlands; and
  7. 7Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands


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.

  • Submitted January 9, 2014.
  • Accepted March 13, 2014.
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