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

Hannah Tamary, Hanna Shalev, Galit Perez-Avraham, Meira Zoldan, Itai Levi, Dorine W. Swinkels, Toshihiko Tanno, Jeffery L. Miller

    Research output: Contribution to journalArticlepeer-review

    108 Scopus citations

    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 CDAI 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.

    Original languageEnglish
    Pages (from-to)5241-5244
    Number of pages4
    JournalBlood
    Volume112
    Issue number13
    DOIs
    StatePublished - 15 Dec 2008

    ASJC Scopus subject areas

    • Biochemistry
    • Immunology
    • Hematology
    • Cell Biology

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