Albertine Donker

Abbreviations 353 11 PPIX Protoporphyrin IX RBC Red blood cell RDW Red cell distribution width RES Reticulo-endothelial system RM Reference material SA Sideroblastic anemia sHJV soluble Hemojuvelin SMAD Sons of mothers against decapentaplegic SLC25A38 Solute carrier 25A38 STAT3 Signal transducer and activator of transcription 3 STAT-RE STAT-responsive element STEAP3 Six-transmembrane epithelial antigen of prostate 3 STR Short tandem repeat TBI Transferrin-bound iron Tf Transferrin TfR1 Transferrin receptor 1 TfR2 Transferrin receptor 2 TIBC Total iron biding capacity TPO Thyroid peroxidase TSAT Transferrin saturation TWSG1 Twisted gastrulation 1 UROD Uroporphyrinogen decarboxylase UROS Uroporphyrinogen synthase UTR Un-translated region VUS Variance of unknown significance WCX-MS-TOF Weak cation exchange chromatography followed by time of flight mass spectrometry WES Whole exome sequencing XLDPP X-Linked Dominant Protoporphyria XLSA X-Linked Sideroblastic Anemia ZIP14 ZRT/IRT protein 14 ZnPP Zinc protoporphyrin ZRT Zinc-regulated transporter