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Blood, 15 December 2008, Vol. 112, No. 13, pp. 5241-5244. Prepublished online as a Blood First Edition Paper on September 29, 2008; DOI 10.1182/blood-2008-06-165738.
RED CELLS Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I1 Hematology Oncology Center, Schneider Children's Medical Center of Israel Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 2 Hematology Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel; 3 Department of Clinical Chemistry, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands; and 4 Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, MD 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.
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