Submitted June 30, 2008
Accepted August 26, 2008
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I
Hannah Tamary*, Hanna Shalev, Galit Perez-Avraham, Meira Zoldan, Itai Levi, Dorine W Swinkels, Toshihiko Tanno, and Jeffery L Miller
Hematology Oncology Center, Schneider Children's Medical Center of Israel Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel
Hematology Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel
Department of Clinical Chemistry, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
Molecular Medicine Branch, NIDDK, NIH, Bethesda, MD, United States
* Corresponding author; email: htamary{at}post.tau.ac.il.
Congenital dyserythropoietic anemia (CDA) is a rare group of red blood cell disorders characterized by ineffective erythropoiesis and increased iron absorption. To determine if growth differentation factor 15 (GDF15) hyper-expression is associated with the ineffective erythropoiesis and iron-loading complications of 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 ± 3,049 pg/ml) compared to 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
