MPN-500 The Characteristics of Patients With Unprovoked Venous Thrombotic Events With JAK2 GGCC (46/1) Haplotype Treated in Tertiary Care Center in Saudi Arabia.

Abstract

The haplotype is a group of genetic markers, represented by various single nucleotide polymorphisms (SNP). There is association between JAK2 GGCC (46/1) haplotype and the susceptibility to develop JAK2 V617F positive MPN. Here we are evaluating the characteristics of patients with unprovoked venous thrombotic events with JAK2 GGCC (46/1) haplotype among patients treated in tertiary care center in Saudi Arabia. This is a retrospective cohort study for patients who were treated at King Fahad Medical City, Riyadh, KSA for unprovoked venous thrombotic events from January 2018 to January 2021, who were positive for rs12343867, or rs10974900. We had around 55 patients with negative initial JAK2 point mutation but positive for JAK2 haplotype. All the reported 8 patients tested positive for JAK2 46/1 haplotype SNPS (rs12343867). They form around 16.36% of the patients with negative initial JAK2 point mutation but positive for JAK2 haplotype. Around 12.50% of them harbor homozygous 1/1 (normal variant of JAK2 haplotype), but around 62.50% harbor homozygous 2/2 and 25.00% harbor heterozygous 1/2. The mean age of the patients were around 45.87 years. Around 87.50% of the patients were female. Around 50.00% of the patients had splanchnic vein thrombosis, 12.50% had cerebral vein thrombosis, 12.50% had deep venous thrombosis, 12.50% had pulmonary embolism, and 12.50% had jugular vein thrombosis. Around 62.5% of the thrombotic events were observed among patients with homozygous 2/2, and 25% of the thrombotic events among patients with heterozygous 1/2. On the other hand, only 12.5% of the thrombotic events were in patients with homozygous 1/1 (normal variant of JAK2 haplotype). Only 12.5% of the patients had splenomegaly evident by radiological evaluation modality.