title: Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndrome.
abstract: OBJECTIVE
  The recent availability of potent oral iron chelators is renewing an interest in the assessment of the possible impact of HFE genetics in MDS.
  
  
  METHODS
  Thirty six newly diagnosed patients with MDS were studied for parameters of iron metabolism in addition to C282Y and H63D mutations of the HFE gene.
  
  
  RESULTS
  Mutations were present in 11 out of 36 patients (31%), which were not different from our general population and were equally distributed among MDS subtypes. Mutated patients had higher ferritin levels (P = 0.039) and lower TIBC (P = 0.018). Ferritin was found to be higher for the untransfused mutated patients (P = 0.017), but not for transfusion-dependent patients in whom ferritin levels correlated significantly with the number of blood units received (P = 0.04). There was no difference in the number of blood units received between the mutated and wild type patients. A new observation made was that the mutated patients had a lower overall survival in addition to a poorer leukemia free survival (LFS) (P = 0.004 and P = 0.003, respectively).
  
  
  CONCLUSIONS
  The HFE gene mutations are not more frequent in MDS patients. Iron overload in mutated patients was higher but there was no correlation found using supportive therapy for anemia. The effect of mutations on survival could be mediated by changes in iron metabolism.
  
  
  CONCLUSIONS
  The HFE genotype may predict MDS prognosis and there is a need for further studies. It remains a challenging question if HFE mutated MDS patients should be considered for potent iron chelation therapy.
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.
authors.forename: Marko
authors.initials: M
authors.lastname: Lucijanić
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.|b University of Zagreb, School of Medicine , Zagreb , Croatia.
authors.forename: Vlatko
authors.initials: V
authors.lastname: Pejša
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.
authors.forename: Zdravko
authors.initials: Z
authors.lastname: Mitrović
authors.affiliation: c Department of Clinical Cytology and Cytometry , University Hospital Dubrava , Zagreb , Croatia.|d University of Osijek, School of Medicine , Croatia.
authors.forename: Tajana
authors.initials: T
authors.lastname: Štoos-Veić
authors.affiliation: e Clinical Institute of Laboratory Diagnosis, Division of Molecular Diagnosis and Genetics , University Hospital Dubrava , Zagreb , Croatia.
authors.forename: Ana
authors.initials: A
authors.lastname: Livun
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.|b University of Zagreb, School of Medicine , Zagreb , Croatia.
authors.forename: Ozren
authors.initials: O
authors.lastname: Jakšić
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.
authors.forename: Tamara
authors.initials: T
authors.lastname: Vasilj
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.
authors.forename: Mario
authors.initials: M
authors.lastname: Piršić
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.
authors.forename: Višnja
authors.initials: V
authors.lastname: Hariš
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.
authors.forename: Željko
authors.initials: Ž
authors.lastname: Prka
authors.affiliation: a Department of Hematology , University Hospital Dubrava , Zagreb , Croatia.|b University of Zagreb, School of Medicine , Zagreb , Croatia.|d University of Osijek, School of Medicine , Croatia.
authors.forename: Rajko
authors.initials: R
authors.lastname: Kušec
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001803:Blood Transfusion; D018572:Disease-Free Survival; D005293:Ferritins / Q000097:blood; D000071020:Hemochromatosis Protein / Q000235:genetics*; D006801:Humans; D007502:Iron Chelating Agents / Q000008:administration & dosage; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics* / Q000401:mortality* / Q000628:therapy; D015996:Survival Rate
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D007502:Iron Chelating Agents; D005293:Ferritins
keywords: C282Y; H63D; HFE; Iron metabolism; Myelodysplastic syndrome; Overall Survival