title: Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.
abstract: Congenital dyserythropoietic anemia (CDA) is a rare group of red blood cell disorders characterized by ineffective erythropoiesis and increased iron absorption. To determine whether growth differentation factor 15 (GDF15) hyper-expression is associated with the ineffective erythropoiesis and iron-loading complications of CDA type I (CDA I), GDF15 levels and other markers of erythropoiesis and iron overload were studied in blood from 17 CDA I patients. Significantly higher levels of GDF15 were detected among the CDA I patients (10 239 +/- 3049 pg/mL) compared with healthy volunteers (269 +/- 238 pg/mL). In addition, GDF15 correlated significantly with several erythropoietic and iron parameters including Hepcidin-25, Ferritin, and Hepcidin-25/Ferritin ratios. These novel results suggest that CDA I patients express very high levels of serum GDF15, and that GDF15 contributes to the inappropriate suppression of hepcidin with subsequent secondary hemochromatosis.
authors.affiliation: Hematology Oncology Center, Schneider Children's Medical Center of Israel Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
authors.forename: Hanna
authors.initials: H
authors.lastname: Shalev
authors.forename: Galit
authors.initials: G
authors.lastname: Perez-Avraham
authors.forename: Meira
authors.initials: M
authors.lastname: Zoldan
authors.forename: Itai
authors.initials: I
authors.lastname: Levi
authors.forename: Dorine W
authors.initials: DW
authors.lastname: Swinkels
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Tanno
authors.forename: Jeffery L
authors.initials: JL
authors.lastname: Miller
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000209:etiology*; D023181:Antimicrobial Cationic Peptides / Q000097:blood; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D004920:Erythropoiesis; D005260:Female; D005293:Ferritins / Q000097:blood; D055436:Growth Differentiation Factor 15 / Q000097:blood*; D064451:Hepcidins; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload; D007557:Israel; D008297:Male
chemical_list: D023181:Antimicrobial Cationic Peptides; D015415:Biomarkers; D055436:Growth Differentiation Factor 15; C578702:HAMP protein, human; D064451:Hepcidins; D005293:Ferritins; D007501:Iron