Naslov
Frequency of factor V Leiden and factor II G20210A in JAK2 V617F positive patients

Autori
Horvat, Ivana ; Radić Antolic, Margareta ; Zadro, Renata

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
ESH International conference on Myeloproliferative neoplasms

Mjesto i datum
Beč, Austrija, 04.10.2012. - 06.10.2012

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
V617F JAK2; Factor II G20210A; Factor V Leiden

Sažetak
Since it was discovered in 2005, mutation V617F in JAK2 gene is one of the most important criteria for diagnosis of Ph negative myeloproliferative neoplasms (MPN). It is well known that MPN patients have, due to hematologic and coagulation abnormalities, high incidence of thrombosis. Additional thrombotic risk factors such as factor V Leiden (FV Leiden) and factor II G20210A (FII G20210A) could increase the risk for thrombosis. The aim of this study was to estimate the frequency of FV Leiden and FII G20210A in JAK2 V617F positive MPN patients. The detection of JAK2 V617F was performed by allele specific PCR (Baxter et al, Lancet 2005 ; 365: 1054-61). Among 114 V617F positive patients included in the study, a statistically significant difference (P<0.001) in gender distribution (women: 75/114, 65.8% and men: 39/114, 34.2%) was observed. Median age for women and men was 62 years but with different range (women 23 - 88, man 24 - 81). The presence of FV Leiden and FII G20210A was determined by the PCR-RFLP according to Zöller et al, J Clin Invest 1994 ; 94: 2521-4 and Poort et al, Blood 1996 ; 88: 3698-703, respectively. Screening for thrombophilia risk factors resulted in 5 heterozygotes for FV Leiden (4.4%) and 2 heterozygotes for FII G20210A (1.8%), which was similar to the frequency of these polymorphisms determined in healthy Croatian population (Coen et al, Croat Med J 2001 ; 42: 488-92). Regardless of similar frequency determined for both polymorphisms in patient and control groups, further study will be performed on a larger number of subjects to investigate if the presence of any of those polymorphisms (together with JAK2 V617F mutation) increases the risk for occurrence of thrombosis.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA