1. Thrombosis in MPN patients and
gene frequency of human platelet antigens
HORVAT I.1, Radić Antolic M.1, Rončević P., 2Serventi-Seiwerth R.2, Zadro R.1
1 Department of Laboratory Diagnostics, 2 Hematology Division - Department of Medicine
University Hospital Center Zagreb School of Medicine      
INTRODUCTION
AIM
Thrombosis is the most common complication in MPN patients.
Besides hereditary thrombophilia factors, polymorphisms in human platelet antigens (HPA) may be associated with increased risk for thrombosis.
The aim of this study was to investigate HPA genotype frequencies and association of genotype with risk for thrombosis in a group of 99 JAK2 V617F positive MPN patients including additional risk factors. 1
METHODS
ASO PCR was performed for JAK2 V617F according to Baxter et al, Lancet 2005.
Genotype analysis was done for hereditary thrombosis risk factors (FV Leiden and FII G20210A using
PCR-RFLP, Zöller et al, J Clin Invest 1994)
and for HPA -1, -2, -3, -5 polymorphisms (Real-time PCR, Ficko et al, Transfus Med 2004).
RESULTS
Table 1. and 2. General information about 99 JAK2 V617F postive patients
Female, N=59
Diagnosis
Male, N=40
Diagnosis
Age at diagnosis
FV Leiden heterozygotes
FII 20210A heterozygotes
Additional risk factors
hypertension
diabetes
smoking
alcohol consumption
lipemia
PV=19
ET=32
MF=8
MDS/MPN=1
PV=18
ET=9
MF=11
MDS/MPN=2
median =58y
(14-85 years)
3/99
3/99
99 patients
50/99 had at least one of additional risk factors
with thrombosis
N= 26
without thrombosis
N= 73
Table 3. and 4. HPA genotype frequency
HPA1
HPA2
HPA3
HPA5
HPA1
HPA2
HPA3
aa ab bb
aa ab bb
aa ab bb
0,01
0,79
0,20
0,23
0,77
0,14
0,51
0,34
0,69
0,31
0,35
0,42
0,24
HPA5
aa ab bb
aa ab bb
0,77
0,22
0,96
0,04
CONCLUSIONS
HPA 5 genotype frequency was statistical different between patients with and without thrombosis (P=0,036) showing that b allele could have protective role in these patients
There was no statistical difference in gender, age, diagnosis, hereditary and additional risk factors between patients with and without thrombosis.