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

• Published in: Blood 2008-12, Vol.112 (13), p.5241-5244
• Main Authors: Tamary, Hannah, Shalev, Hanna, Perez-Avraham, Galit, Zoldan, Meira, Levi, Itai, Swinkels, Dorine W., Tanno, Toshihiko, Miller, Jeffery L.
• Format: Article
• Language: English
• Subjects: Anemia, Dyserythropoietic, Congenital - etiology; Antimicrobial Cationic Peptides - blood; Biological and medical sciences; Biomarkers - blood; Case-Control Studies; Erythropoiesis; Female; Ferritins - blood; Growth Differentiation Factor 15 - blood; Hematologic and hematopoietic diseases; Hepcidins; Humans; Iron - metabolism; Iron Overload; Israel; Male; Medical sciences; Red Cells
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood-2008-06-165738

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.