The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, Ida Vanessa D. Schwartz

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy (n = 2), and ferritin was found to decrease from 756 [318-1441] ng/mL at baseline to 521 [227-626] ng/mL (p = 0.025) after 28.8 months of treatment. Serum ferritin levels did not correlate with measures of disease severity, but showed an association with age at onset of treatment (_ = 0.880; n = 18; p < 0.001). In conclusion, although serum ferritin did not correlate with disease severity, after a median 28.8 months of treatment, clinical outcomes had clearly improved, and ferritin levels had decreased.

Original languageEnglish (US)
Pages (from-to)30-34
Number of pages5
JournalGenetics and Molecular Biology
Issue number1
StatePublished - Jan 1 2016


  • Biomarkers
  • Ferritin
  • Gaucher disease
  • Iron metabolism

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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