Albertine Donker

X-linked Sideroblastic Anemia in the Netherlands 219 6 2. Treatment • Pyridoxine unresponsiveness in XLSA should not be diagnosed until iron overload has been treated adequately, as iron accumulation is known to reduce pyridoxine activity. • Phlebotomies should be considered even in patients with severe anemia in order to reduce the toxic effects of iron overload and to improve erythropoiesis. 3. Family screening • All first-degree family members should be genetically and phenotypically (Hb, MCV, iron, transferrin and ferritin) screened. Even though XLSA is an X-linked disease, women can develop the disease. Author contributions AED is a pediatric hemato-oncologist and PhD student who analyzed the results, reviewed the literature and drafted the manuscript; RAR, HKN and MAM are consultants in hematology who diagnosed, clinically followed and treated some of the patients (HKN retired); MJHC is a molecular biologist who designed and performed the haplotype analysis; PPB is a pediatric hemato-oncologist who clinically followed and treated some of the patients. MCJ is an internal specialist who clinically followed and treated some of the patients. DWS is a laboratory physician and expert in disorders of iron metabolism. RAR and DWS initiated and edited the manuscript and supervised the work. All authors contributed to drafting the manuscript and approved the final version. Acknowledgements We thank Erwin Wiegerinck for sequencing the ALAS2 -gene of the majority of the patients and Siem Klaver for the design and maintenance of the patient database. We report no conflicts of interest.