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

Abstract
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.
AuthorsHannah Tamary, Hanna Shalev, Galit Perez-Avraham, Meira Zoldan, Itai Levi, Dorine W Swinkels, Toshihiko Tanno, Jeffery L Miller
JournalBlood (Blood) Vol. 112 Issue 13 Pg. 5241-4 (Dec 15 2008) ISSN: 1528-0020 [Electronic] United States
PMID18824595 (Publication Type: Journal Article, Research Support, N.I.H., Intramural)
Chemical References
  • Antimicrobial Cationic Peptides
  • Biomarkers
  • Growth Differentiation Factor 15
  • HAMP protein, human
  • Hepcidins
  • Ferritins
  • Iron
Topics
  • Anemia, Dyserythropoietic, Congenital (etiology)
  • Antimicrobial Cationic Peptides (blood)
  • Biomarkers (blood)
  • Case-Control Studies
  • Erythropoiesis
  • Female
  • Ferritins (blood)
  • Growth Differentiation Factor 15 (blood)
  • Hepcidins
  • Humans
  • Iron (metabolism)
  • Iron Overload
  • Israel
  • Male

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