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

Autor:	Zdravko Mitrović, Tamara Vasilj, Vlatko Pejša, Ana Livun, Višnja Hariš, Željko Prka, Mario Piršić, Ozren Jakšić, Marko Lucijanic, Rajko Kusec, Tajana Štoos-Veić
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Male 0301 basic medicine medicine.medical_specialty Hfe gene Ferritin levels Population Mutation Missense Biology Iron Chelating Agents Gastroenterology Disease-Free Survival 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Overall survival Humans Blood Transfusion Hemochromatosis Gene Hemochromatosis Protein education Aged education.field_of_study Wild type Myelodysplastic syndrome HFE C282Y H63D Iron metabolism Hematology Middle Aged Survival Rate Ferritin 030104 developmental biology Amino Acid Substitution Myelodysplastic Syndromes 030220 oncology & carcinogenesis Ferritins Immunology biology.protein Blood units
DOI:	10.1080/10245332.2015.1101964
Popis:	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.
Databáze:	OpenAIRE
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