Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndrome

Scientific paper - Original scientific paper

• Author: Marko Lucijanić
• Author: Vlatko Pejša
• Author: Zdravko Mitrović
• Author: Tajana Štoos-Veić
• Author: Ana Livun
• Author: Ozren Jakšić
• Author: Tamara Vasilj
• Author: Mario Piršić
• Author: Višnja Hariš
• Author: Željko Prka
• Author: Rajko Kušec
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

OBJECTIVES:

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). -----

DISCUSSION:

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. -----

CONCLUSION:

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.

• Keywords (english): Aged; Amino Acid Substitution; Blood Transfusion; Disease-Free Survival; Ferritins/blood; Hemochromatosis Protein/genetics; Humans; Iron Chelating Agents/administration & dosage; Male; Middle Aged; Mutation, Missense; Myelodysplastic Syndromes/blood; Myelodysplastic Syndromes/genetics; Myelodysplastic Syndromes/mortality; Myelodysplastic Syndromes/therapy; Survival Rate
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Accepted version
• Journal title: Hematology
• Numbering: vol. 21, no. 3, pp. 170-174
• p-ISSN: 1024-5332
• DOI: https://doi.org/10.1080/10245332.2015.1101964
• URN:NBN: urn:nbn:hr:105:456350
• Publication: 2016-04
• Document URL: https://doi.org/10.1080/10245332.2015.1101964
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 08:58:54