Albertine Donker

Rare Inherited Iron and Heme-related Anemias 123 3 Conclusions We present a clinical guideline on orphan diseases of which many aspects are still unknown. Consequently, the level of evidence for the management of these disorders is relatively low. We therefore recommend centers of excellence with expertise with these diseases to join forces in order to identify new mechanisms, biomarkers and treatments and to optimize the management of these patients. Until more evidence is available, this guideline can be used to assist clinicians and patients in their understanding, diagnosis and management of microcytic genetic anemias of iron metabolism or heme synthesis. Authorship Contribution: AED, RAPR, PPTB, ND, LTV, NVAMK, RT, DWS were members of the working group, made literature and case-tables, drafted, discussed and finalized the guidelines and edited the manuscript; TvB: advisor and support in the use of the methodology for guideline development; DWS, initiated and coordinated the project and acquired funding. All authors approved the final version of the manuscript. Conflict-of-interest disclosure DWS is medical director of the www.hepcidinanalysis.com initiative that serves the scientific and medical community with hepcidin measurements at a fee-for service basis. She is an employee of the Radboud medical center that offers genetic testing for the genes described in the current guideline (at http://www. umcn.nl/Informatievoorverwijzers/Genoomdiagnostiek/en/Pages/default.aspx ). The remaining authors declare no competing financial interests. Acknowledgements We thank M. Wessels, literature specialist, for her help in the systematic literature review of the various databases. Financial support was provided by a grant from the Quality Foundation Funds Medical Specialist (SKMS) of the Netherlands association of Medical specialist (OMS).