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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.


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RED CELLS

Brief report

Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I

Hannah Tamary1, Hanna Shalev2, Galit Perez-Avraham2, Meira Zoldan1, Itai Levi2, Dorine W. Swinkels3, Toshihiko Tanno4, and Jeffery L. Miller4

1 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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