Albertine Donker

Rare Inherited Iron and Heme-related Anemias 121 3 Defect in heme synthesis or iron-sulfur cluster biogenesis Sideroblastic anemia X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia Sideroblastic anemia Erythropoietic protoporphyria Congenital Erythropoietic Porphyria EPP XLDPP CEP XLCEP SLC25A38 ABCB7 ALAS2 + GLRX5 FECH ALAS2 ± UROS GATA1 SLC25A38 ABCB7 ALAS2 GLRX5 FECH ALAS2 UROS GATA1 20-100 5-20 >100 < 5 (=1) >100 20-100 >200 1 AR XL ¶ XL AR most AD XL AR XL child child variable adult neonate/ child neonate/ child variable fetus-adult neonate no yes ** no no no no no no no no no no yes yes yes yes severe mild mild, no anemia a mild mild, no anemia mild, no anemia hemolytic, severity variable severe, hemolytic micro micro micro micro micro/ normo normo no data micro yes yes yes yes yes no data no No yes high no normal variable variable yes high no low/normal no low/normal no data no data no normal high normal normal/high high normal/low normal/low no data normal no data no data no data no data no data no data no data no data HSCT transfusion chelation not indicated pyridoxine folate phlebotomy chelation erytx chelation no treatment for anemia/ avoid skin light no treatment for anemia/ avoid skin light HSCT erytx chelation avoid skin light no data liver iron loading has been described demonstrated by MRI and liver biopsy, even if serum ferritin is normal; d , iron loading may be secondary to erythrocyte transfusion; e , hepcidin increased in relation to iron parameters, hepcidin/ TSAT ratio > upper limit of reference range in absence of inflammation; f , measured after treatment with transfusions; g , only 1 human study available on EPO. Abbreviations: EPO denotes erythropoietin; erytx, erythrocyte transfusion; TF, transferrin; HSCT, hematopoietic stem cell transplantation; AD, Autosomal Dominant; AR, Autosomal Recessive