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Systems Medicine Conference in Slovenia

Systems Medicine Conference in Slovenia: National Awareness Event,12th CFGBC Symposium and “Systems Medicine” Workshop took place from June 8th-9th 2017 at Hotel Slon, Ljubljana, Slovenia.

CASyM winter school of Systems Medicine

CASyM winter school of Systems Medicine took place between March 29th and April 1st 2017 in Ljubljana, Slovenia and is entitled »The 3rd SysBioMed hands-on tutorial: Systems Medicine Approaches in Personalized Medicine«

ELIXIR-SI launch & 11TH CFGBC Symposium

The event with motto “Data for Life” took place from September 20th - 21st 2016 at Cankarjev dom and the Faculty of Medicine, University of Ljubljana, Slovenia.

2017-06-08


Familial Erythrocytosis in Slovenian population

Lucija Vermiglio1,2,3,Anja Kopitar1,2,3,Anja Solarovič1,2,3,Nina Stemac2,4,Martina Fink2,Tadej Pajič2,Saša Anžej Doma2,Tanja Belčič2,Matjaž Sever2,Peter Černelč2,Nataša Debeljak1,Irena Preložnik Zupan2

1Medical Center for Molecular Biology, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Slovenia,2Clinical Department of Haematology, University Medical Centre Ljubljana, Slovenia,3MSc Medicine, Faculty of Medicine, University of Ljubljana, Slovenia,4BSc Laboratory biomedicine, Faculty of Pharmacy, University of Ljubljana, Slovenia

Erythrocytosis is defined by an increased mass of erythrocytes, hematocrit (Ht) and hemoglobin (Hb) in blood. It is caused by an inherited or acquired mutations or as a compensatory mechanism in some chronical diseases. Polycythemia vera (PV) is the most common acquired erythrocytosis caused by mutations in Janus kinase 2 (JAK2), routinely tested at University Medical Centre (UMC) Ljubljana and Maribor. Other genetic forms or familial erythrocytosis (FE) are indicated as JAK2 negative. Primary inherited FE is linked with mutations in erythropoietin receptor (EPOR), secondary can be caused by mutations in O2 sensing pathway or high O2 affinity hemoglobin [1].
The aims of our study are to determine frequencies of erythrocytosis in Slovenian population and genetic variations in this group of patients with emphasis on familial erythrocytosis. Lifestyle and comorbidities, contributing to disease development, will also be assessed to find out some correlations with clinical pictures. Research started with literature overview and current erythrocytosis diagnostic criteria and continued with selection of representative population and clinical examination.
From April 2011 till September 2016 ~3900 samples were analyzed for JAK2 mutation at UMC Ljubljana and Maribor. Among them 1100 were JAK2 positive and 2800 JAK2 negative. From 1225 JAK2 negative samples tested at Clinical Department of Hematology, University Medical Centre Ljubljana, 171 samples were excluded from the study due to other mutations found for myeloproliferative neoplasms: BCR-ABL1, CALR, MPL and c-KIT. Remaining 1054 patients were reviewed for increased Ht in two separate testing at least 2 months apart. We found 34 women with Ht > 0,46 and 47 men with Ht > 0,50. All 81 patents are invited to collaborate in extensive questionnaire and additional genetic testing.
From literature review we conclude the prevalence of FE is less than 1 per 100.000, the incidence is unknown. We are expecting to find two families in Slovenian population.
1. McMullin (2016) Int J Lab Hematol

2006 - University of Ljubljana, Faculty of Medicine, Center for Functional Genomics and Bio-chips.