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Blood. 2008 Dec 15;112(13):5241-4. doi: 10.1182/blood-2008-06-165738. Epub 2008 Sep 29.

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

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  • 1Hematology Oncology Center, Schneider Children's Medical Center of Israel Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.


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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